Biochem

Front 1

full-term neonate of uneventful delivery becomes mentally retarded and hyperactive and has a musty odor. What is the d?

Back 1

PKU

Front 2

Stressed executive comes home from work, consumes 7 or 8 martinis in rapid succession before dinner, and becomes hypoglycemic. What is the mechanism?

Back 2

NADH increase prevents gluconeogenesis by shunting pyruvate and oxaloacetate to lactate and malate

Front 3

2 y/o girl has an increase in abd girth, failure to thrive and skin and hair depigmentation. What is the dx

Back 3

kwashiorkor

Front 4

alcoholic develops a rash, diarrhea, and altered mental status. What is the vitamen deficiency

Back 4

vit B3 (pellagra)

Front 5

51 y/o man has black spots in his sclera and has noted that his urine turns black upon standing. What is the dx

Back 5

alkaptonuria

Front 6

25 y/o male complains of severe chest pain and has xanthomas on his achilles tendons. What is the dz, and where is the defect?

Back 6

familial hypercholesterolemia; LDL receptor

Front 7

Condensed by (-) charged DNA looped twice around (+) charged H2A, H2B, H3, & H4 histone octamers (nucleosome bead). H1 ties nucleosmes together on a string (30-mm fiber). In mitosis, DNA condenses to form mitotic chromosomes.

Back 7

Chromatin sx--image 77

note: Think of beads on a string

Front 8

this type of chromatin is condensed, transcriptionally inactive

Back 8

heterochromatin

Front 9

this type of chromatin is less condensed, transcriptionally active

Back 9

euchromatin

eu=true, "truely transcribed."

Front 10

purines are _____ & _____ and have _____ ring/s.
pyramidines are _____,_____, &______

Back 10

A,G (2 rings)
C,T,U (1 ring)

mneu: PURe As Gold: PURines.
CUT the PY (pie)

Front 11

Guanine has a _______

Back 11

ketone

Front 12

Thymine has a ______

Back 12

methyl

mneu: THYmine has a meTHYl

Front 13

Deamination of cytosine makes a _____

Back 13

uracil

Front 14

uricil is found in this nucleic acid

Back 14

RNA

Front 15

thymine is found in this nucleic acid

Back 15

DNA

Front 16

This bond has 3 H bonds and is therefore stronger that this bond which only has 2 H bonds

Back 16

G-C bond > A-T

Front 17

nucleotides with a higher G-C means a higher this

Back 17

melting temperature

Front 18

nucleotides are linked by this type of bond

Back 18

3'-5' phosphodiesterase bond

Front 19

image p. 77 purines (A,G)

Back 19

--

Front 20

image p. 77 pyramidine (C,T,U)

Back 20

--

Front 21

this refers to substituting purine for purine or pyrimidine for pyrimidine

Back 21

transition

mneu: TransItion=Identical types

Front 22

this refers to substituting purine for a pyrimidine or pyrimidine for purine

Back 22

Transversion

mneu: TransVersion=conVersion between types

Front 23

this feature of the genetic code refers to the fact that each codon specifies only 1 amino acid

Back 23

unambiguous

Front 24

this feature of the genetic code refers to the fact that more than 1 codon may code for the same amino acid

Back 24

degenerate

Front 25

the genetic code is commaless, nonoverlapping (except some viruses) T or F

Back 25

T

Front 26

the genetic code is universal (exceptions include mitochondria, archaeobacteria, mycoplasma, and some yeast) T or f

Back 26

T

Front 27

this mutation in dna often involves the same AA, it is often a base change in the 3rd position of codon (tRNA wobble).

Back 27

silent

Front 28

this mutation in dna involves a changed AA (conservative-new AA is similar in chemical sx)

Back 28

missense

Front 29

this mutation in dna often involves a change resulting in an early STOP CODON

Back 29

nonsense

mneu: stop the nonsense

Front 30

this mutation in dna often involves a change resulting in misreading of all nucleotides downstream, usually resulting in a truncated protein

Back 30

frame shift

Front 31

Single origin of replication in prokaryotic DNA replication by DNA polymerases refers to ________ DNA synthesis on the leading strand and _______ on the lagging strand

Back 31

Continuous
Discontinuous (Okazaki fragments)

Front 32

DNA polymerase III has ____ synthesis and proofreads with ______ exonuclease

Back 32

5'->3'

3'->5'

Front 33

DNA polymerase I excises RNA primer with ____ exonuclease

Back 33

5'-3'

Front 34

these create a nicks in the helix to relieve supercoils

Back 34

DNA topoisomerase

Front 35

this makes an RNA primer on which DNA polymerase III can initiate replication

Back 35

Primase

Front 36

this elongates the chain by adding deoxynucleotides to the 3' end until it reaches primer of preceding fragment. 3' ->5' exonuclease activity "profreads" each added nucleotide.

Back 36

DNA polymerase III

Front 37

this degrades RNA primer

Back 37

DNA polymerase I

Front 38

this seals

Back 38

DNA ligase

Front 39

image p. 78 Prokaryotic DNA replication and DNA polymerases

Back 39

--

Front 40

eukaryotic genome has _____ origins of replications

Back 40

multiple

Front 41

replication begins at a consensus sequence of ____ base pairs

Back 41

AT

Front 42

eukaryotes have seperate polymerases ______ for synthesizing RNA primers, leading-strand DNA, mitochondrial DNA, and DNA repair

Back 42

(αβδγε)

Front 43

describe DNA repair of single strand

Back 43

single strand, excision repair-specific glycosylase recognizes and removes damaged base. Endonuclease makes a break several bases to the 5' side. Exonuclease removes a short stretch of nucleotides. DNA polymerase fills gap. DNA ligase seals.

Front 44

DNA repair defects regarding skin sensitivity to UV light results in this dz

Back 44

xeroderma pigmentosum

Front 45

DNA repair defects regarding x-rays results in this dz

Back 45

ataxia-telangiectasia

Front 46

DNA repair defects regarding radiation results in this dz

Back 46

Bloom's syndrome

Front 47

DNA repair defects regarding cross-linking agents results in this dz

Back 47

Fanconi's anemia

Front 48

xeroderma pigmentosum is this inheritance

Back 48

autosomal recessive

Front 49

XP results in defective excision repair such as uvr ABC endonuclease. It results in inability to repair _____, which form in DNA when exposed to UV light.

Back 49

thymidine dymers [image p. 79]

Front 50

XP is associated w/ these things

Back 50

dry skin, melanoma, & other CA

Front 51

DNA & RNA are both synthesized in this direction

Back 51

5' ->3'

Front 52

The 5' of the incoming nucleotide bears the ______ . The 3' hydroxyl of the nascent chain is the target

Back 52

triphosphate (energy source for bond

mneu: Imagine the incoming nucleotide bringing a gift (triphosphate) to the 3' host. "BYOP (phosphate) from 5 to 3"

Front 53

Protein synthesis procedes in this direction

Back 53

5' ->3'

Front 54

amino acids are linked in this way

Back 54

N to C

Front 55

mRNA is the _____ type of RNA

rRNA is the most _____ type of RNA

tRNA is the ______ type of RNA

Back 55

massive, Rampant, Tiny

Front 56

In prokaryotes this makes all 3 kinds of RNA

Back 56

RNA polymerase

Front 57

In eukaryotes, ________ makes rRNA

Back 57

RNA polymerase I

mneu: I,II, III are numbered as their products are used in protein sythesis

Front 58

In eukaryotes, ________ makes mRNA

Back 58

RNA polymerase II

mneu: I,II, III are numbered as their products are used in protein sythesis

Front 59

In eukaryotes, ________ makes tRNA

Back 59

RNA polymerase III

mneu: I,II, III are numbered as their products are used in protein sythesis

Front 60

eukaryotic RNA polymerase has no ________ fx, but can initiate chains

Back 60

proofreading fx

Front 61

RNA polymerase II opens DNA at _________

Back 61

promoter site (A-T rich upstream sequence ---TATA and CAAT).

Front 62

this poison is found in death cap mushrooms and works by inhibiting RNA polymerase II

Back 62

alpha-amantin

Front 63

what is the mRNA initiation codon

Back 63

AUG (or rarely GUG)

mneu: AUG inAUGurates protien synthesis

Front 64

in eukaryotes AUG codes for this, which may be removed before translation is completed

Back 64

methionine

Front 65

in prokaryotes the initial AUG codes for ________

Back 65

formyl-methionine (fmet)

Front 66

Give stop codons

Back 66

UGA,UAA,UAG

mneu: U Go Awau, U Are Away, U Are Gone

Front 67

In the regulation of gene expression, this is the site where RNA polymerase and multiple other transcription factors bind to DNA upstream from gene locus

Back 67

promotor

Front 68

promoter mutation commonly results in this

Back 68

dramatic decrease in amount of gene transcribed

Front 69

In the regulation of gene expression, stretch of DNA that alters gene expression by binding transcription factors. May be located close to, far from, or even within (in an intron) the gene whose expression it regulates

Back 69

enhancer

Front 70

In the regulation of gene expression, this is the site where negative regulators (repressors) bind.

Back 70

operator

Front 71

These contain actual genetic information coding for proteins

Back 71

exons [image p. 80]

mneu: INtrons stay IN the nucleus, whereas EXons EXit and are EXpressed

Front 72

These are intervening noncoding segments of DNA

Back 72

introns

mneu: INtrons stay IN the nucleus, whereas EXons EXit and are EXpressed

Front 73

Introns are precisely spliced out of primary mRNA transcripts. A lariat-shaped intermediate is formed. ___________ facilitate splicing by binding to primary mRNA transcripts and forming splicosomes.

Back 73

small nuclear ribonucleoprotein particles (snRNP)

Front 74

RNA processing in eukaryotes occurs in the _______, after transcription.

Back 74

nucleus

Front 75

only _______ is transported out of the nucleus

Back 75

processed RNA

Front 76

describe RNA processing in eukaryotes (3 steps)
[image p. 80]

Back 76

1) capping on 5' end (7-methyl-G)
2) Polyadenylations on 3' end (-200 As)
3) Splicing out of introns

Front 77

what is the initial transcript of RNA processing (eukaryotes) called

Back 77

heterogeneous nuclear RNA (hnRNA)

Front 78

capped and tailed transcript is called _______

Back 78

mRNA

Front 79

tRNA sx consists of 75-90 nucleotides, cloverleaf form, anticodon end is opposite 3' aminoacyl end. All tRNAs, both eukaryotic and prokaryotic, have CCA 3' end along w/ a high percentage of chemically modified bases. The amino acid is covalently bound to the ___ end of the tRNA.

Back 79

3'

Front 80

1 of these is used up per AA, it uses ATP and scrutinizes AA before and after it binds to tRNA. If incorrect, bond is hydrolyzed. The AA-tRNA bond has energy for formation of peptide bond.

Back 80

Animoacyl-tRNA synthetase

Front 81

A mischarged tRNA reads usual codon but inserts the ______

Back 81

wrong AA

Front 82

___________ and binding of charged tRNA to the codon are responsible for accuracy of amino acid selection

Back 82

aminoacyl-tRNA synthetase

Front 83

image tRNA charging [p. 81]

Back 83

--

Front 84

this describes how accurate base parining is required only in the 1st 2 nucleotide positions of an mRNA codon, so codons differing in the 3rd position may code for the same tRNA/amino acid

Back 84

tRNA wobble

Front 85

In ribosome protein synthesis Met sits in the ______ site

Back 85

P site(peptidyl)

Front 86

In ribosome protein synthesis, the incoming amino acid binds to the _____ site, hydrolyzing Met's bond to its tRNA while simulatneously forming a peptidyl bond between 2 amino acids.

Back 86

A site (aminoacyl)

Front 87

The ribosome shifts 1 codon towards the 3' end of the mRNA, shifting the uncharged tRNA into the __ position and the dipeptidyl tRNA into the __ site

Back 87

E
P

Front 88

ATP is used for this with tRNA

Back 88

Activation (charging)

Front 89

GTP is used for this with tRNA

Back 89

Gripping and Going places (translocation)

Front 90

enzyme kinetics [image p. 82]

Back 90

--

Front 91

the lower the Km, the _____ the affinity

Back 91

higher

Front 92

this type of inhibitor resembles substrate

Back 92

competitive inhibitor

Front 93

this type of inhibitor can be overcome by increase concentration of substrate

Back 93

competitive inhibitor

Front 94

this type of inhibitor binds to the active site

Back 94

competitive inhibitor

Front 95

competitive inhibitors have this effect on Vmax

Back 95

no effect

Front 96

non0competitive inhibitors have this effect on Vmax

Back 96

decreased

Front 97

competitive inhibitors have this effect on Km

Back 97

increased

Front 98

Noncompetitive inhibitors have this effect on Km

Back 98

no effect

Front 99

enzyme regulation methods:
alter this for increased or decreased synthesis or destricution effects

Back 99

enzyme concentrations

Front 100

enzyme regulation methods: phosphorylation effects

Back 100

covalent modification

Front 101

enzyme regulation methods:
proteolytic modification effects

Back 101

zymogen

Front 102

enzyme regulation methods:
allosteric regulation effects

Back 102

feedback inhibition

Front 103

enzyme regulation methods:
steroid hormones effects

Back 103

transcriptional regulation

Front 104

Give the Cell cycle synthesis phases and what they stand for

Back 104

M (mitosis: prophase-metaphase-anaphase-telophase)
G1 (growth)
S (synthesis of DNA)
G2 (growth)
Go (quiescent G1 phase)

Front 105

these 2 phases are of variable duration

Back 105

G1 & Go

Front 106

this is usually the shortest phase

Back 106

M

Front 107

Most cells are in this phase

Back 107

Go

Front 108

rapidly dividing cells have a shorter ____ phase

Back 108

G1

Front 109

image- cell cycle phases p. 82

Back 109

--

Front 110

this is the site of synthesis of secretory (exported proteins and of N-linked oligosaccharide addition to many proteins

Back 110

Rough endoplasmic reticulum (RER)

Front 111

Mucus-secreting goblet cells of the small intestine and antibody-secreting plasma cells are rich here

Back 111

RER

Front 112

this is the site of steroid synthesis and detoxification of drugs and poisons

Back 112

smooth endoplasmic reticulum (SER)

Front 113

Liver hepatocytes and steroid hormone-producing cells of the adrenal cortex are rich in _____

Back 113

SER

Front 114

Functions of Golgi apparatus

Back 114

1) distribution center of proteins and lipids from ER to the plasma membrane, lysosomes, and secretory vesicles
2)modifies N-oligosaccharides on asparagine
3) Adds O-oligosaccharides to serine and threonine residues
4) Proteoglycan assembly from proteoglycan core proteins
5) Sulfation of sugars in proteoglycans and of selected tyrosine on proteins
6) Addition of mannose-6 phosphate to specific lysosomal proteins, which targets the protein to the lysosome.

Front 115

I cell disease is caused by the failure of the addition of _________ to lysosome proteins, causing thse enzymes to be secreted outside the cell inside of being targeted to the lysosome. Characterized by coarse facial features and restricted joint movement.

Back 115

mannose-6-phosphate

Front 116

This is a cylindrical sx 24 nm in diameter and of variable lenght. A helical array of polymerized dimers of alpha and Beta tubulin (13 per circumference). Each dimer has 2 GTP bound. Incorporated into flagella, cilia, mitotic spindles. Grows slowly, collapses quickly.

Back 116

microtubules

Front 117

this cell sxs are involved in slow axoplasmic transport in neurons

Back 117

microtubules

Front 118

name 5 drugs that act on microtubules

Back 118

1) mebendazole/thiabendazole (antihelminthic)
2) taxol (anti Br CA
3) Griseofulvin (antifungal)
4) Vincristine/Vinblastine (anti-cancer)
5) Colchicine (anti gout

Front 119

This syndrome is due to a microtubule polymerization defect resulting in decreased phagocytosis

Back 119

Chediak-Higashi syndrome

Front 120

this cell sx has 9 + 2 arrangement of microtubules

Back 120

cilia

Front 121

In cilia, this is an ATPase that links peripheral 9 doublets and causes bending of cilium by differential sliding of doublets

Back 121

dynein

Front 122

this syndrome is due to a dynein arm defect, resulting in immotile cilia

Back 122

Kartagener's syndrome

Front 123

dynein is

Back 123

retrograde

Front 124

kinesin is

Back 124

anterograde

Front 125

what are the 2 major components of plasma membranes

Back 125

cholesterol (-50%)
phospholipids (-50%)

there are also sphingolipids, glycolipids, and proteins.

Front 126

High cholesterol or long saturated fatty acid content results in this

Back 126

increase melting temp.

Front 127

this side of the membrane contains glycosylated lipids or proteins

Back 127

noncytoplasmic side

Front 128

T or F. The plasma membrane is an asymmetric, fluid bilater

Back 128

T

Front 129

This is a major component of RBC membranes, of myelin, of bile, and of surfactant. It is also used in the esterification of cholesteral.

Back 129

Phosphatidylcholine

Front 130

specific phosphatidylcholine used in esterification of chelesterol

Back 130

LCAT is lecithin-cholesterol acyltransferase

Front 131

specific phosphatidylcholine used in surfactant

Back 131

DPPC= dipalmitoyl phosphatidylcholine

Front 132

This is located in the plasma membrane w/ ATP site on the cytoplasmic side.

Back 132

Na+K+ATPase (sodium pump)

Front 133

For each ATP consumed, ___ Na+ go out and __ K+ come in.

Back 133

3/2

Front 134

During each cycle of the sodium pump this occurs

Back 134

phosphorylation

Front 135

This inhibits by blinding to K+ site.

Back 135

Ouabain

Front 136

These also inhibit the Na+K+ATPase causing increased cardiac contractility

Back 136

cardiac glycosides (digoxin, digitoxin)

Front 137

image sodium pump (p. 84)

Back 137

--

Front 138

G protein linked 2nd messengers [image p. 85]

Back 138

--

Front 139

This is the most abundant protein in the human body. It fxs to organize and strengthen extracellular matrix.

Back 139

collagen

Front 140

this type of collagen is 90% of collagen. It makes up BONE, tendon, skin, dentin, fascia, cornia, late wound repair

Back 140

Type I

mneu: B Cool, Read Books
type I: bONE

Front 141

this type of collagen makes up CARTILAGE (including hyaline), vitreous body, nucleus pulposis

Back 141

Type II

mneu: B Cool, Read Books
type II: carTWOlage

Front 142

this type of collagen makes up skin, blood vessels, uterus, fetal tissue, granulation tissue

Back 142

Type III (reticulin)

mneu: B Cool, Read Books

Front 143

this type of collagen makes up basement membrane or basal lamina

Back 143

Type IV

mneu: B Cool, Read Books
Type IV: under the floor (basement membrane

Front 144

This type of cartilage makes up the epiphyseal plate

Back 144

Type X

Front 145

collagen alpha chains are called

Back 145

preprocollagen

Front 146

preprocollagen is translated on this

Back 146

RER

Front 147

Inside fibroblast, collagen alpha chains or (preprocollagen) is usually this type of polypeptide

Back 147

Gly-XY (X & Y are proline, hydroxyproline or hydroxylysine)

Front 148

inside the the ER in fibroblasts hydroxylation of specific proline and lysine residues occurs. Hydroxylation requires this vitamen

Back 148

C

Front 149

Inside fibroblasts the golgi glycosylates the pro alpha chain lysine residues and formation of _______

Back 149

procollagen (triple helix of 3 collagen chains)

Front 150

these molecules are then exocytosed into into the extracellular space

Back 150

procollagen

Front 151

outside fibroblasts, procollagen peptidases cleave terminal regions of procollagen, transforming procollagen into insoluble ______

Back 151

tropocollagen

Front 152

Many staggered tropocollagen molecules are reinforced by covalent lysine-hydroxylysine cross linkage (by lysyl oxidase) to make

Back 152

collagen fibrils

Front 153

this syndrome results in faulty collagen synthesis causing:
1) hyperextensible skin
2) tendency to bleed (easy bruising)
3) hypermobile joints

Back 153

ehlers-danlos syndrome

Front 154

Ehlers-Danlos syndrome is associated with this problem

Back 154

berry aneurysms

Front 155

This dz is a primarily autosomal-dominant d/o caused by a variety of gene defects resulting in abnormal collagen synthesis. It is characterized by :
1) multiple fractures occuring with minimal trauma (brittle bone dz), which may occur during the birth process
2) Blue sclerae due to the translucency of the connective tissue over the choroid
3) hearing loss (abnormal middle ear bones)
4) Dental imperfections due to lack of dentition

Back 155

osteogenesis imperfecta

Front 156

What can osteogenesis be confused with

Back 156

child abuse

Front 157

what is the incidence of OI type I

Back 157

1:10,000

Front 158

what is the incidence of OI type II

Back 158

0 - death in utero

Front 159

Given the immunohistochemical stain give the cell type it stains for:
Vimentin

Back 159

Connective tissue

Front 160

Given the immunohistochemical stain give the cell type it stains for:
Desmin

Back 160

muscle

Front 161

Given the immunohistochemical stain give the cell type it stains for:
Cytokeratin

Back 161

epithelial cells

Front 162

Glial fibrillary acid proteins (GFAP)

Back 162

neuroglia

Front 163

Neurofilaments

Back 163

neurons

Front 164

Give the site of metabolism: Fatty acid oxidation (B-oxidation)

Back 164

mitochondria

Front 165

Give the site of metabolism: acetyl-CoA production

Back 165

mitochondria

Front 166

Give the site of metabolism: Krebs cycle

Back 166

mitochondria

Front 167

Give the site of metabolism: glycolysis

Back 167

cytoplasm

Front 168

Give the site of metabolism: fatty acid synthesis

Back 168

cytoplasm

Front 169

Give the site of metabolism: HMP shunt

Back 169

cytoplasm

Front 170

Give the site of metabolism: protein synthesis (RER)

Back 170

cytoplasm

Front 171

Give the site of metabolism: steroid synthesis (SER)

Back 171

cytoplasm

Front 172

Give the site of metabolism: gluconeogenesis

Back 172

both cytoplasm and mitochondria

Front 173

Give the site of metabolism: urea cycle

Back 173

both cytoplasm and mitochondria

Front 174

Give the site of metabolism: heme synthesis

Back 174

both cytoplasm and mitochondria

Front 175

summary of pathways [p.87]

Back 175

--

Front 176

give the enzyme deficiency that would result in MILD galactosemia

Back 176

galactokinase

Front 177

give the enzyme deficiency that would result in SEVERE galactosemia

Back 177

galactose-1-phosphate uridyltransferase

Front 178

give the enzyme deficiency that would result in Von Gierke's

Back 178

glucose-6-phosphatase

Front 179

give the enzyme deficiency that would result in essential fructosuria

Back 179

fructokinase

Front 180

give the enzyme deficiency that would result in fructose intolerance

Back 180

aldolase B

Front 181

This is an adenine base + ribose + 3 phosphoryls. 2 phosphoanhydride bonds, 7 kcal/mol each

Back 181

ATP

Front 182

aerobic metabolism of glucose produces this manny ATP via the malate shuttle and this many ATP via G3P shuttle

Back 182

38
36

Front 183

Anaerobic glycolysis produces this many ATP per glucose molecule

Back 183

2

Front 184

How is ATP hydrolysis used

Back 184

it is coupled to energetically unfavorable rxns

Front 185

ATP image p [88]

Back 185

--

Front 186

Give the activated carrier for each molecule:
ATP

Back 186

phosphoryl

Front 187

Give the activated carrier for each molecule: NADH, NADPH, FADH2

Back 187

electrons

Front 188

Give the activated carrier for each molecule: Coenzyme A, lipoamide

Back 188

Acyl

Front 189

Give the activated carrier for each molecule: biotin

Back 189

CO2

Front 190

Give the activated carrier for each molecule: tetrahydrofolates

Back 190

1-carbon units

Front 191

Give the activated carrier for each molecule: SAM

Back 191

CH3 groups

Front 192

Give the activated carrier for each molecule: TPP

Back 192

Aldehydes

Front 193

Give the activated carrier for each molecule: UDP-glucose

Back 193

Glucose

Front 194

Give the activated carrier for each molecule: CDP-choline

Back 194

Choline

Front 195

ATP + methionine -->

Back 195

SAM

Front 196

What does SAM do?

Back 196

SAM transfers methyl units to a wide variety of acceptors (e.g., synthesis of phosphocreatine, a high-energy phosphate active in muscle ATP production).

mneu: SAM the methyl donor man

Front 197

Regeneration of methionine (and thus SAM) is dependent on this vitamen

Back 197

B12

Front 198

give the signal molecule given its precursor: ATP ->

Back 198

cAMP via adenylate cyclase

Front 199

give the signal molecule given its precursor: GTP ->

Back 199

cGMP via guanylate cyclase

Front 200

give the signal molecule given its precursor: Glutamate ->

Back 200

GABA via glutamate decarboxylase (requires vitamen B6

Front 201

give the signal molecule given its precursor: choline->

Back 201

ACH via choline acetyltransferase (ChAT)

Front 202

give the signal molecule given its precursor: arachidonate->

Back 202

prostaglandins, thromboxanes, leukotrienes via cyclooxygenase/ lipoxygenase

Front 203

give the signal molecule given its precursor: fructose-6-P->

Back 203

fructose 1,6-bis-P via phosphofructokinase (PFK), the rate-limiting enzyme of glycolysis

Front 204

give the signal molecule given its precursor: 1,3BPG->

Back 204

2,3-BPG via bisphosphoglycerate mutase

Front 205

what are the 2 universal electron acceptors

Back 205

Nicotinamides (NAD+,NADP+) and flavin nucleotides (FAD+)

Front 206

NADPH is a procatabolicduct of this pathway

Back 206

HMP shunt

Front 207

NAD+ is generally used in _______ processes to carry reducing equivalents away as NADH

Back 207

catabolic

Front 208

NADPH is used in _____ processes (steroid and fatty acid synthesis) as a supply of reducing equivalents

Back 208

anabolic

Front 209

NADPH is used in these 3 ways:

Back 209

1) anabolic processes
2) respiratory burst
3) P-450

Front 210

image p. 89 -oxygen dependent respiratory burst

Back 210

--

Front 211

where is hexokinase found

Back 211

throughout the body

Front 212

where is glucokinase found

Back 212

liver

mneu: gLucokinase in Liver

Front 213

describe the Km and Vmax of glucokinase in comparison to hexokinase

Back 213

glucokinase has a lower affinity [higer Km] but higher capacity [ higher Vmax]

Front 214

which one hexokinase or glucokinase is feedback inhibited by G6P

Back 214

hexokinase

Front 215

which one hexokinase or glucokinase phosphorylates excess glucose (e.g., after a meal) to sequester it in the liver as G6P

Back 215

glucokinase

Front 216

give the irreversible enzymes in glycolysis regulation

Back 216

hexokinase/glucokinase
phosphofructokinase-1 (RLS)
pyrovate kinase
pyruvate dehydroginase

Front 217

hexokinase/glucokinase converts D-glucose into what?
what is this inhibited by?

Back 217

Glucose-6-P
Glucose-6-P(inh by product)

Front 218

phosphofructokinase-1 (RLS) converts fructose 6-phosphate into what?
what is it inhibited by?
stimulated by?

Back 218

Fructose-1,6-BP
inh by: ATP, citrate
stim by: AMP,Fructose-2,6-BP

Front 219

pyrovate kinase converts phosphoenolpyruvate into what?
what is it inhibited by?
stimulated by?

Back 219

pyruvate
stim: fructose-1,6-BP
inh: ATP, alanine

Front 220

pyruvate dehydroginase converts pyuvate into what?
what is it inhibited by?

Back 220

Acetyl CoA
inh: ATP, NADH
Acetyl-CoA

Front 221

Glycolyc enzyme deficiencies such as hexokinase, glucose phosphate isomerase, aldolase, triosephosphate isomerase, phosphate glycerate kinase, enolase, and pyruvate kinase deficiencies are associated with what condition

Back 221

hemolytic anemia

Front 222

why do glycolytic enzyme deficiencies result in hemolytic anemia

Back 222

RBCs metabolize glucose anaerobically (no mitochondria) and thus depend solely on glycolysis

Front 223

The pyruvate dehydrogenase complex contains 3 enzymes that require 5 cofactors. What are these cofactors.

Back 223

1) pyrophosphate (B1, thyamine; TTP)
2) FAD (B2, riboflavin)
3) NAD (B3, niacin)
4) CoA (B5, pantothenate)
5. Lipoic acid

Front 224

Pyruvate dehydrogenase complex is similar to what other complex (same cofactors, similar substrate and action)

Back 224

alpha ketoglutarate

Front 225

give thee pyruvate dehydrogenate reaction.

Back 225

pyruvate + NAD+ + CoA
-> acetyl CoA + CO2 + NADH

Front 226

pyruvate dehydrogenase complex is activated by exercise because it increases these three things

Back 226

NAD+/NADH ratio
ADP
Ca++

Front 227

pyruvate dehydrogenase deficiency causes a backup of substrate which is?

Back 227

pyruvate and alanine

Front 228

pyruvate dehydrogenase deficiency results in this

Back 228

lactic acidosis

Front 229

pyruvate dehydrogenase deficiency is often seen in alcoholics due to a deficiency of this vitamen

Back 229

B1

Front 230

someone with a pyruvate dehydrogenase deficiency may present with this deficit

Back 230

neurologic

Front 231

what is the tx for pyruvate dehydrogenase deficiency

Back 231

increase intake of ketogenic nutrients (e.g., high fat content or high lysine and leucine)

Front 232

name the only purely ketogenic amino acids

Back 232

lysine and leucine

Front 233

image p. 90 pyruvate metabolism

Back 233

--

Front 234

how many ATP equivalents are needed to generate glucose from pyruvate

Back 234

6

Front 235

this AA serves as a carrier of amino groups form mm to liver

Back 235

alanine

Front 236

this can be used to replenish TCA cycle or in gluconeogenesis

Back 236

oxaloacetate

Front 237

This cycle transfers excess reducing equivalents from RBCs and mm to liver, allowing muscle to funcction anaerobically (net 2 ATP)

Back 237

cori cycle

Front 238

TCA cycle enzymes

Back 238

Citrate
Isocitrate
alpha-Ketogluterate
Succinyl-CoA
Succinate
Fumarate
Malate
Oxaloacetate

mneu: Can I Keep Selling Sex For Money, Officer?

Front 239

What does the TCA cycle produce per Acetyl-CoA?
how much do we multiply these numbers by if we are dealing with glucose?

Back 239

3NADH,
1FADH2
2CO2
1GTP
12 ATP

2x w/ glucose

Front 240

image TCA cycle p. 91

Back 240

--

Front 241

in the electron transport cha in 1 NADH gives how many ATP

Back 241

3

Front 242

in the electron transport cha in 1 FADH gives how many ATP

Back 242

2

Front 243

name 4 electron transport inhibitors that directly inhibit electron transport, causing a decrease of proton gradient and block ATP synthesis

Back 243

rotenone, antimycin A, CN-, CO

Front 244

This ATPase inhibitor directly inhibits mitochondrial ATPase, causing an increase of proton gradient, but no ATP is produceed because electron transport stops

Back 244

oligomycin

Front 245

Uncoupling agents like this increase the permeability of the membrane, causing a decrease of proton gradient and increase O2 consumption. ATP synthesis stops. Electron transport continues.

Back 245

2,4 DNP

Front 246

irreversible enzymes in gluconeogenesis

Back 246

pyruvate carboxylase
PEP carboxykinase
Fructose-1,6-biphosphatase
Glucose-6-phosphate

mneu: Pathway Produces Fresh Glucose

Front 247

pyruvate carboxylase is found here and converts this to this
It requires this
& is activated by this

Back 247

mitochondria
pyruvate ->oxaloacetate
biotin, ATP
Acetyl-CoA

Front 248

PEP carboxykinase is found here and converts this to this
It requires this

Back 248

cytosol
oxaloacetate
->phosphoenolpyruvate
GTP

Front 249

Fructose-1,6-biphosphatase is found here and converts this to this.

Back 249

cytosol
fructose-1,6 bisphosphate
->fructose-6-P

Front 250

where does gluconeogenesis occur

Back 250

liver, kidney, intestinal epithelium

note: mm cannot participate in gluconeogenesis

Front 251

deficiency of key gluconeogenic enzymes results in this

Back 251

hypoglycemia

Front 252

this dz is caused by a lack of glucose 6 phospatase in the liver

Back 252

Von Gierke's

Front 253

This pathway produces ribose-5-P for nucleotide synthesis
and produces NADPH from NADP+ for fatty acid and steroid biosynthesis and for maintaining reduced glutathione inside RBCs

Back 253

Pentose Phosphate Pathway (HMP shunt)

Front 254

All pentose Phosphate Pathway (HMP shunt) reactions occur here

Back 254

cytoplasm

Front 255

Is ATP used or produced in Pentose Phosphate Pathway (HMP shunt)

Back 255

no

Front 256

give sites of Pentose Phosphate Pathway (HMP shunt)

Back 256

all sites of fatty acid or steroid synthesis (e.g., lactating mammary glands, liver, adrenal cortex

Front 257

this is the rate-limiting enzyme in HMP shunt (which yields NADPH)

Back 257

G6PD

Front 258

NADPH is necessary to keep this reduced, which in turn detoxifies free radicals and peroxides

Back 258

glutathione

Front 259

decreased NADPH in RBCs lead to this due to poor RBC defense against oxidizing agents (fava beans, sulfonamides, primaquine) and antituberculosis drugs

Back 259

hemolytic anemia

Front 260

G6PD deficiency is more prevelent amun this racial group

Back 260

blacks

Front 261

this sign of G6PD deficiency describes when hemoglobin precipitates within RBCs

Back 261

Heinz bodies

Front 262

G6PD deficiency has this inheritance

Back 262

x-linked recessive

Front 263

image p. 92 - G6PD deficiency

Back 263

--

Front 264

This is a hereditary deficiency of aldolase B (recessive) Fructose-1-phosphate accumulates causing a decrease in available phosphate, which results in inhibition of glycogenolysis and gluconeogenesis.
Symptoms include hypoglycemia,jaundice, cirrhosis, vomiting

Back 264

fructose intolerance

Front 265

what is the tx for fructose intolerance

Back 265

decrease intake of both fructose and sucrose (glucose + fructose)

Front 266

this d/o involves a defect in fructokinases and is a benign, asymptomatic condition.
Symptoms: fructose appears in blood and urine.

Back 266

essential fructosuria

Front 267

essential fructosuria is a deficiency in this enzyme

Back 267

fructokinase

Front 268

fructose intolerance is a deficiency in this enzyme

Back 268

aldolase B

Front 269

This d/o is an absense of galactose-1-phosphate uridyltransferase. It is autosomal recessive. Damage is caused by accumulation of toxic substances (including galactitol) rather than absense of an essential compound.
Symptoms: cataracts, hepatosplenomegaly, mental retardation

Back 269

galactosemia

Front 270

tx of galactosemia

Back 270

exclude galactose and lactose (galactose + glucose) from diet

Front 271

this enzyme deficiency causes galactosemia and galactosuria, galactosuria, galactitol accumulation if galactose is present in ddiet.

Back 271

galactokinase deficiency

Front 272

image p. 93 galactose metabolism

Back 272

--

Front 273

this is an age dependent or hereditary intolerance to dairy often seen in blacks and asians. Symptoms include bloating, cramps and osmotic diarrhea.
Tx includes avoiding milk or adding lactase pills to diet

Back 273

lactase deficiency

Front 274

give the ketogenic essential amino acids

Back 274

leucine, lysine

All essential amino acids: PriVaTe TIM HALL

Front 275

give the glucogenic/ketogenic essential amino acids

Back 275

Ile, Phe, Trp

All essential amino acids: PriVaTe TIM HALL

Front 276

give the glucogenic essential amino acids

Back 276

Met, Thr,Val, Arg, His

All essential amino acids: PriVaTe TIM HALL

Front 277

which 2 AA are required during periods of growth

Back 277

Arg
His

Front 278

what are the acidic amino acids

Back 278

Asp, Glu

mneu: Asp=aspartic ACID, Glu=glutamic ACID

Front 279

At body pH (7.4) acidic amino acids (Asp, Glu)are _____ charged

Back 279

negatively

Front 280

what are the basic amino acids

Back 280

arg, lys, his

Front 281

At body pH (7.4) basic amino acids (Arg, lys)are _____ charged, but _____ has no net charge

Back 281

positively

his

Front 282

arg and lys have an extra _____ group

Back 282

NH3

Front 283

the MOST basic amino acid

Back 283

arginine

Front 284

thise 2 AA are found in high amounds in histones, which bind to negatively charged DNA

Back 284

arg, lys

Front 285

image p 94. Transport of ammonium by alanine and glutamine

Back 285

--

Front 286

this cycle degrades amino acids into amino groups. It accounts for 90% of the nitrogen in the urine.

Back 286

urea cycle

Front 287

urea cycle occurs in this organ

Back 287

liver

Front 288

in what part of the cell does the urea cycle occur

Back 288

carbamoyl phosphate incorporation occurs in the mitochondria; the remaining steps occur in the cytosol

Front 289

urea cycle image p. 94

Back 289

ornithine, Carbamoyl phosphate, Citrulline, Aspartate, Argininosuccinate, Fumarate, Arginine, urea

mneu: Ordinarily, Careless Crappers Are Also Frivolous About Urination

Front 290

give the amino acid derivative of epinephrin

Back 290

phenylalanine

Front 291

give the amino acid derivative of thyroxine

Back 291

phenylalanine

Front 292

give the amino acid derivitive of NAD+/NADP+

Back 292

tryptophan

Front 293

give the amino acid derivative of melanin

Back 293

phenylalanine

Front 294

give the amino acid derivative of serotonin

Back 294

tryptophan

Front 295

give the amino acid derivative of melatonin

Back 295

tryptophan

Front 296

give the amino acid derivative of histamine

Back 296

histadine

Front 297

give the amino acid derivative of heme

Back 297

Glycine

Front 298

give the amino acid derivative of creatine

Back 298

arginine

Front 299

give the amino acid derivative of urea

Back 299

arginine

Front 300

give the amino acid derivative of nitric oxide

Back 300

arginine

Front 301

give the amino acid derivative of GABA

Back 301

glutamate

Front 302

give the amino acid derivative of dopamine

Back 302

phenylalanine

Front 303

give the amino acid derivative of norepinephnine

Back 303

phenylalanine

Front 304

In normal metabolism phenylalanine is converted into _____

Back 304

tyrosine

Front 305

in PKU there is decreased ________ or decreased tetrahydrobiopterin cofactor

Back 305

phenylalanine hydroxylase

Front 306

findings of phenylketonuria

Back 306

mental retardation, growth retardation, fair skin, eczema, musty body odor.

mneu: d/o of AROMATIC amino acid metabolism -> musty body ODOR

Front 307

tx of PKU

Back 307

no phenylalanine in diet (e.g., aspartame, nutrasweet) and increase in tyrosine

Front 308

when should you screen for PKU

Back 308

at birth

Front 309

name the 3 phenylketones

Back 309

phenylacetate
phenyllactate
phenylpyruvate

Front 310

what is the inheratiance of PKU & incidence

Back 310

autosomal-recessive dz
1:10,000

Front 311

this is a congenital deficiency of homogentisic acid oxidase in the degradative pathway of tyrosine.

Back 311

alkaptonuria

Front 312

in alkaptonuria, these cause the urine to turn black on standing

Back 312

alkapton bodies

Front 313

in alkaptonuria, in addition to dark urine this is also dark

Back 313

connective tissue

Front 314

pts w/ alkaptonuria may have debilitating

Back 314

arthralgias

Front 315

this d/o is a congenital deficiency of either of the follwoing:
1) tyrosinase (inability to synthesize melanin from tyrosine)
2) Defective tyrosine transporters (decrease amounts of tyrosine and thus melanin)
It can result from lack of migration of neural crest cells

Back 315

albinism

Front 316

lack of melanine results in an increase risk of this CA

Back 316

skin CA

Front 317

this dz results in excess homocysteine in the urine. Cysteine becomes essential. It can cause mental retardation, osteoporosis, tall stature, kyphosis, lens subluxation (downward and inward) and atherosclerosis (stroke and MI

Back 317

homocystinuria

Front 318

there are three forms of homocystinuria. Name the enzyme deficiency and give the dietary txs if there is one

Back 318

1) cytathionine synthase deficiency (tx: decrease Met & increase Cys in diet)
2) decrease affinity of cystathionine synthase for pyridoxal phosphate (tx: increase vit. B6 in diet)
3) Methionine synthase deficiency

Front 319

image. Homocystinuria. p.96

Back 319

--

Front 320

This is a common(1:7000) inherited defect of renal tubular amino acid transporter for Cystine, Ornithine, Lysine, and Arginine in kidneys. Excess cystine in urine can lead to the precipitation of cystine kidney stones

Back 320

Cystinuria

mneu: COLA in the urine

Front 321

this is a congenital deficiency of homogentisic acid oxidase in the degradative pathway of tyrosine.

Back 321

alkaptonuria

Front 322

in alkaptonuria, these cause the urine to turn black on standing

Back 322

alkapton bodies

Front 323

in alkaptonuria, in addition to dark urine this is also dark

Back 323

connective tissue

Front 324

pts w/ alkaptonuria may have debilitating

Back 324

arthralgias

Front 325

this d/o is a congenital deficiency of either of the follwoing:
1) tyrosinase (inability to synthesize melanin from tyrosine)
2) Defective tyrosine transporters (decrease amounts of tyrosine and thus melanin)
It can result from lack of migration of neural crest cells

Back 325

albinism

Front 326

tx for Cystinuria

Back 326

acetazolamide to alkalinize the urine

Front 327

this dz results from blocked degradation of BRANCHED AA (Ile, Val, Leu) due to decreease alpha ketoacid dehydrogenase. It causes increased alpha ketoacids in the blood, esp Leu. It causes severe CNS defects, mental retardation, and death.

Back 327

maple syrup urine dz

mneu: urine smells like maple syrup. I Love Vermont maple syrup

Front 328

tx for Cystinuria

Back 328

acetazolamide to alkalinize the urine

Front 329

this dz results from blocked degradation of BRANCHED AA (Ile, Val, Leu) due to decreease alpha ketoacid dehydrogenase. It causes increased alpha ketoacids in the blood, esp Leu. It causes severe CNS defects, mental retardation, and death.

Back 329

maple syrup urine dz

mneu: urine smells like maple syrup. I Love Vermont maple syrup

Front 330

purine salvage deficiencies p. 97

Back 330

--

Front 331

what does SCID stand for?
What is the enzyme deficiency?What immune cells are involved?
Who does it effect

Back 331

Severe combined (T and B) immuodeficiency dz.
Adenosine deaminase (ADA)deficiency
happens to kids

mneu: bubble boy

Front 332

pathophysiology of SCID

Back 332

excess ATP and dATP imbalances nucleotide pool via feedback inhibition of ribonucleotide reductase. This prevents DNA synthesis and thus decreases lymphocyte count.

Front 333

This dz results from a purine salvage problem owing to absense of HGPRTase, which vonverts hypoxanthine, to inosine monophosphate (IMP) and guanine to guanosine monophosphate (GMP)

Back 333

Lesch-Nyyhan syndrome

mneu: LNS- Lacks Nucleotide Salvage (purine)

Front 334

inheratance of Lesch Nyhan syndrome

Back 334

X-linked recessive.

Front 335

LNS results in excess of this acid

Back 335

uric acid

Front 336

patient manifestation of Lesch-Nyhan syndrome

Back 336

retardation, self-mutilation, aggression, hyperuricemia, gout, choreoathetosis

Front 337

image fed state v. fasting state p. 97

Back 337

--

Front 338

is the fasting state phosphorylated or non-phosphorylated

Back 338

phosphorylated

mneu: in the fasting state phosphorylate

Front 339

this hormone is required for adipose and skeletal mm uptake of glucose

Back 339

insulin

mneu: INsulin moves glucose INto cells

Front 340

where is insulin made (cells/organ)

Back 340

Beta cells of pancreas

Front 341

what receptors are found in the beta cells

Back 341

GLUT 2

Front 342

what receptors are found in mm and fat

Back 342

GLUT 4

Front 343

insulin inhibits the release of this hormone by alpha cells of pancreas

Back 343

glucagon

Front 344

is serum C-peptide present w/ exogenous insulin intake

Back 344

no

Front 345

what are the anabolic effects of insulin

Back 345

1) glucose transport
2) glycogen synthesis and storage
3) triglyceride synthesis and storage
4)Na+ retention (kidneys)
5) protein sytnesis (mm

Front 346

Name the tissues that don't need insulin for glucose uptake

Back 346

Brain
RBCs
Intestine
Cornea
Kidney
Liver

mneu: BRICK L

Front 347

Glucagon ______ (phosphorylates/Dephosphorylates), turns glycogen sytnase _____ and phosphorylase ____

Back 347

phosphorylates
OFF
ON

Front 348

Insulin______ (phosphorylates/Dephosphorylates), turns glycogen sytnase _____ and phosphorylase ____

Back 348

dephosphorylates
ON
OFF

Front 349

there are 12 types of these diseases all resulting in abnormal glycogen metabolism and accumulation of glycogen within cells

Back 349

glycogen storage diseases

Front 350

In this glycogen storage disease, there is a glucose 6-phosphatase deficiency

Back 350

Von Gierke's dz (GSD type I)

Front 351

Give some clinical findings of Von Gierke's dz (GSD type I)

Back 351

severe fasting hypoglycemia, increased glycogen in the liver, hepatomegly, increased blood lactate

hint: the liver becomes a mm

Front 352

In this glycogen storage disease, there is a lysosomal alpha 1,4-glucosidase deficiency

Back 352

Pompe's dz (type II)

Front 353

Give some findings of Pompe's dz

Back 353

cardiomegly and systemic findings, leading to early death

mneu: Pompe's trashes the Pump
(heart, liver mm)

Front 354

In this glycogen storage disease, there is a deficiency of debranching enzyme alpha 1,6 glucosidase

Back 354

Cori's dz (type III)

Front 355

give some clinical findings of Cori's dz

Back 355

milder form of type I w/ normal blood lactate levels

Front 356

In this glycogen storage disease, there is a deficiency of skeletal mm glycogen phosphorylase deficiency

Back 356

McArdle's dz (type V)

mneu: McArdle's: Muscle

Front 357

Give some findings of McArdle's dz

Back 357

increased glycogen in mm but cannot greak it down, leading to painful cramps, myoglobinuria w/ strenuous exercise

Front 358

this classification of dz is caused by a deficiency in one of the many lysosomal enzymes

Back 358

lysosomal storage diseases

Front 359

clinical findings are peripheral neuropahty of hands/feet, antiokeratomas, CV/renal dz. What is the dz? deficient lysosomal enzyme? Accumulated substrate? Inheritance?

Back 359

Fabry's dz
alpha-galactosidase A
Ceramide trihexoside
XR

Front 360

clinical findings are hepatosplenomegly, aseptic necrosis of femur, bone crises. What is the dz? deficient lysosomal enzyme? Accumulated substrate? Inheritance?

Back 360

Gaucher's dz
B-glucocerbrosidase
Glucocerebroside
AR

Front 361

clinical findings are progressive neurodegeneration, HSM, cherry red spot on macula What is the dz? deficient lysosomal enzyme? Accumulated substrate? Inheritance?

Back 361

Niemann-Pick dz
Sphingomyelinase
Sphingomyelin
AR

mneu:NO MAN PICS (NIEMANN-PICK) his nose w/ his SPHINGER(SPHINGomylenase

Front 362

clinical findings are progressive neurodegeneration, developmental delay, cherry-red spot, lysozymes w/ onion skin. What is the dz? deficient lysosomal enzyme? Accumulated substrate? Inheritance?

Back 362

Tay-Sachs dz
Hexosaminidase A
GM2 ganglioside
AR

mneu: Tay-SaX (Tay-Sachs) lacks heXosaminidase

Front 363

clinical findings are peripheral neuropathy, developmental delay, optic atrophy. What is the dz? deficient lysosomal enzyme? Accumulated substrate? Inheritance?

Back 363

Krabbe's dz
B-galactosidase
Galactocerebroside
AR

Front 364

clinical findings are central and peripheral demyelination w/ ataxia, dementia. What is the dz? deficient lysosomal enzyme? Accumulated substrate? Inheritance?

Back 364

Metachromatic leukodystophy
Arylsulfatase A
Cerebroside sulfate
AR

Front 365

clinical findings are developmental delay, gargoylism, airway obsxn, corneal clouding, HSM What is the dz? deficient lysosomal enzyme? Accumulated substrate? Inheritance?

Back 365

Hurler's syndrome
alpha-L-iduronidase
Heparan sulfate & dermatan sufate
AR

Front 366

clinical findings are mild Hurler's w/ aggressive behavior, no corneal clouding. What is the dz? deficient lysosomal enzyme? Accumulated substrate? Inheritance?

Back 366

Hunter's syndrome
Iduronate sulfatase
heparan sulfate, dermatan sulfate
XR

mneu: HUNTERS aim for the X (X-linked recessive)

Front 367

fatty acid metabolism. image 100

Back 367

--

Front 368

Where does fatty acid degradation occur

Back 368

mitochondria
(where its products will be consumed)

Front 369

in the liver, fatty acid and amino acids are broken down into ______ to be used by _____ & ______

Back 369

ketone bodies (acetoacetate + hydroxybuterate
To be used in mm & brain).

Front 370

when are ketone bodies found

Back 370

prolonged starvation and diabetic ketoacidosis

Front 371

how are ketone bodies excreted

Back 371

urine

Front 372

what are ketone bodies made from

Back 372

HMG CoA

Front 373

Ketone bodies are metabolized by the brain to 2 molecules of _______

Back 373

acetyl-CoA

Front 374

how do ketone bodies smell on the breath

Back 374

like acetone (fruity odor)

Front 375

What is the rate-limiting step in cholesterol synthesis

Back 375

HMG-CoA reductase, which converts HMG-CoA to mevalonate.

Front 376

What cholesterol drug inhibits HMG CoA reductase

Back 376

Lovastatin

Front 377

2/3 of plasma cholesterol is esterified by this

Back 377

lecithin-cholesterol acyltransferase (LCAT)

Front 378

image lipoproteins p. 101

Back 378

--

Front 379

this lipase is responsible for degradation of dietary TG in the small intestine

Back 379

pancreatic lipase

Front 380

this lipase is responsible for degradation TG circulating in chylomicrons and VLDLs

Back 380

lipoprotein lipase

Front 381

this lipase is responsible for degradation TG remaining in IDL

Back 381

Hepatic TG lipase

Front 382

this lipase is responsible for degradation of TG stored in adipocytes

Back 382

hormone sensitive lipase

Front 383

this major apolipoprotein Activates LCAT

Back 383

AI

Front 384

this major apolipoprotein Binds to LDL receptor

Back 384

B-100

Front 385

this major apolipoprotein is a Cofactor for lipoprotein lipase

Back 385

CII

Front 386

this major apolipoprotein mediates Extra (remnant) uptake

Back 386

E

Front 387

the cells in this part of the body convert FFA back to TG and package it in chylomicrons

Back 387

intestines

Front 388

give the 5 lipoproteins

Back 388

chylomicrons, VLDL, IDL, LDL, HDL

Front 389

this lipoprotein delivers dietary triglycerides to peripheral tissues and dietary cholesterol to the liver. It is secreted by intestinal epithelial cells. Excess causes pancreatitis, lipemia retinalis, and eruptive xanthomas

Back 389

chylomicron

Front 390

Apolipoprotein ____ mediates secetion of chylomicrons

Back 390

B-48

Front 391

Apolipoprotein ____ are used for formation of new HDL

Back 391

A

Front 392

Apolipoprotein ____ activates lipoprotein lipase

Back 392

C-II

Front 393

Apolipoprotein ____ mediates remnant uptake by liver

Back 393

E

Front 394

These lipoproteins deliver hepatic triglycerides to peripheral tissues.

Back 394

VLDL

Front 395

VLDL is secreted by this organ

Back 395

liver

Front 396

excess VLDL causes this dz

Back 396

pancriatitis

Front 397

this apolipoprotein mediates secretion of VLDL

Back 397

B-100

Front 398

this apolipoprotein mediates remnant uptake of VLDL by the liver

Back 398

E

Front 399

this lipoprotein is formed in the degradation of VLDL. It delivers triglycerides and cholesterol to the liver, where they are degraded to LDL

Back 399

IDL

Front 400

This lipoprotein delivers hepatic cholesterol to peripheral tissues It is formed by a lipoprotein lipase modification of VLDL in the peripheral tissue. It is taken up by target cells via receptor-mediated endocytosis. Excess causes atherosclerosis, xanthomas, and arcus cornae

Back 400

LDL

Front 401

this LDL apolipoprotein mediates binding to cell surface receptor for endocytosis

Back 401

B-100

Front 402

This lipoprotein mediates centripetal transport of cholesterol (reverse cholesterol transport, from perhiphery to liver). It acts as a repository for apoC and apo E (which are needed for chylomicron and VLDL metabolism). It is secreted from both liver and intestine

Back 402

HDL

Front 403

this HDL apolipoprotein helps form HDL sx

Back 403

A

Front 404

this HDL apolipoprotein in particular activates LCAT (which catalyzes esterification of cholesterol)

Back 404

A-I

Front 405

this HDL apolipoprotein mediates transfer of cholesterol esters to other lipoprotein particles.

Back 405

CETP

Front 406

LDL & HDL carry most cholesterol. ___ transports cholesterol from liver to tissue; ____ transports it from periphery to liver

Back 406

LDL
HDL

Front 407

This type of familial dyslipidemia results from a lipoprotein lipase deficiency or altered apolipoprotein CII. It results in increased chylomicrons which leads to elevated blood levels of TG & cholesterol

Back 407

type I - hyperchylomicronemia

Front 408

This type of familial dyslipidemia results from a decrease in LDL receptors. It results in an increase of LDL which leads to elevated cholesterol.

Back 408

type IIa hypercholesterolemia

Front 409

This type of familial dyslipidemia results from a hepatic overproduction of VLDL leading to an increase in LDL and VLDL leading to elevated TG & cholesterol

Back 409

type IIb-combined hyperlipidemia

Front 410

This type of familial dyslipidemia results from altered apolipoprotein E leading to an increase in IDL & VLDL resulting in elevated TG & cholesterol

Back 410

type III-dysbetalipoproteinemia

Front 411

This type of familial dyslipidemia results from hepatic overproduction of VLDL resulting in increased VLDL levels leading to elevated TGs in the blood

Back 411

type IV-hypertriglyceridemia

Front 412

This type of familial dyslipidemia results from increased production and decreased clearance of VLDL and chylomicrons leading to increased VLDL and chylomicrons resulting in elevated blood levels of TGs & cholesterol

Back 412

type V-mixed hypertriglyceridemia

Front 413

underproduction of heme causes this type of anemia

Back 413

microcytic hypochromic

Front 414

accumulations of heme intermediates causes thius

Back 414

porphyrias

Front 415

image p103- heme synthesis

Back 415

---

Front 416

this type of porphyria inhibits ferrochelatase and ALA dehydrase. Cooproporphyrin and ALA accumulate in the urine

Back 416

lead poisoning

Front 417

this type of porphyria results from a deficiency in uroporphyrinogen I synthetase. Porphobilogen and delta-ALA accumulate in urine

Back 417

Acute intermittent porphyria

Front 418

this type of porphyria results from a deficiency in uropophyrinogen decarboxylase. Uroporphyrin accumulates in urine (tea-colored). results in photosensitivity

Back 418

Porphyria cutanea tardia

Front 419

symptoms of porphyrias (5 Ps)

Back 419

Painful abdomen
Pink urine
Polyneuropathy
Psychological disturbances
Precipitated by drugs

Front 420

heme is scavenged from RBCs and ____ is reused

Back 420

Fe++

Front 421

heme ->_____->bilirubin

Back 421

biliverdin

Front 422

bilirubin is toxic to this organ system

Back 422

CNS

Front 423

bili is transported by this protein

Back 423

albumin

Front 424

bili is removed from the blood by this organ

Back 424

liver

Front 425

bili is conjugated with this ____

Back 425

glucuronate

Front 426

bili is excreted in this supstance

Back 426

bile

Front 427

where in the body is bili processed into its excreted form

Back 427

intestine

Front 428

some ________, an intestinal intermediate, is reabsorbed into blood and excreted as urobilin into urin

Back 428

urobilinogen

Front 429

this poison has a 200x greater affinity than O2 for HGB

Back 429

CO

Front 430

hemoglobin is composed of 4 polypeptide subunits. describe them

Back 430

2 alpha
2 beta

Front 431

HGB exists in 2 forms what are they

Back 431

T (taut) low affinity for O2
R (relaxed) high affinity for O2 (300x)

Front 432

Hgb exibits _______ cooperativity and ________ allostery (accounts for the sigmoid-shaped O2 dissociation curve for hgb), unlike myoglobin

Back 432

positive
negative

Front 433

name the things that favor the relaxed form of hgb (shifting dissociation curve to the right, leading to O2 unloading)

Back 433

increased Cl-,H+,CO2,2,3BPG, hight temp.

mneu: when you're relaxed, you do your job better (carry O2)

Front 434

what are the fetal hgb subunits

Back 434

2alpha
2gamma

Front 435

fetal hgb has a lower affinity for _____ than adult hgb and thus has a higher affinity for O2

Back 435

2,3-BPG

Front 436

Iron in hgb is in a _____ state (ferrous, Fe++)

Back 436

reduced

Front 437

this is an oxidized form of hgb (ferric, Fe++) that does not bind O2 as readily but has increased affinity for CN-.

Back 437

methemoglobin

Front 438

administer this in cyanide poisoning to oxidize hgb to methemoglobin form

Back 438

nitrites

Front 439

tx toxic levels of METHemoglobin with -----

Back 439

METHylene blue

Front 440

CO2 is transported in the blood by binding to

Back 440

amino acids in the globin chain (at N terminus) but not to heme

Front 441

CO2 binding favors this form of hgb (and thus promotes O2 unloading)

Back 441

taut

Front 442

CO2 must be transported from tissue to lungs, the reverse of O2, and this occurs primarily in what form

Back 442

bicarbinate

Front 443

this is a molecular biology laboratory procedure that is used to synthesize many copies of a desired fragment of DNA

Back 443

polymerase chain reaction (PCR

Front 444

steps of PCR

Back 444

1) DNA is denatured by heating to generate 2 separate strands
2)during cooling, excess premade DNA primers anneal to a specific sequence on each strand to be amplified
3) heat-stable DNA polymerase replicates the DNA sequence following each primer

These steps are repeated multiple times for DNA sequence aplification

Front 445

In this molecular biology technique, a DNA sample is electrophoresed on a gel and then transferred to a filter. The filter is then soaked in a denaturant and subsequently exposed to a labeled DNA probe that recognizes and anneals to its complementary strand. The resulting double stranded labeled piece of DNA is visualized when the filter is exposed to film.

Back 445

southern blot

SNoW DRoP:
Southern=DNA
Northern=RNA
Western=Protein

Front 446

this molecular biology technique, is a similar technique, except that it involves radioactive DNA probe binding to sample RNA

Back 446

northern blot

SNoW DRoP:
Southern=DNA
Northern=RNA
Western=Protein

Front 447

In this molecular biology technique, sample protein is separated via gel electrophoresis and transferred to a filter. Labeled antibody is used to bind to relevant PROTEIN

Back 447

Western drop

SNoW DRoP:
Southern=DNA
Northern=RNA
Western=Protein

Front 448

in this method of testing, a pts blood sample is probed with either:
1)test Ag (coupled to color-generating enzyme)-to see if immune system recognizes it; or
2) Test Ab (coupled to color generating enzyme) to see if certain Ag is present

If the target subsance is present in the sample, the test solution will have an intense color reaction, indicating a positive test result.

Back 448

Enzyme-linked immunosorbent assay (ELISA)

Front 449

image ELISA p. 105

Back 449

--

Front 450

ELISA is used in many labs to determine whether a particular ___(e.g., anti-HIV) is present in a pts blood sample. Both the sensitivity and specificity of ELISA approach 100% but both false positive and false negative results do occur

Back 450

Antibody

Front 451

define the genetic term VARIABLE EXPRESSION

Back 451

nature and severity of the phenotype varies from 1 individual to another

Front 452

define the genetic term INCOMPLETE PENETRANCE

Back 452

Not all individuals with a mutant genotype show the mutant phenotype

Front 453

define the genetic term PLEIOTROPY

Back 453

1 gene has >1 effect on an individual's phenotype

Front 454

define the genetic term IMPRINTING

Back 454

differences in phenotype depend on whether the mutationis of maternal or paternal origin (e.g., AngelMan's syndrome [Maternal], Prader-Willi syndrome [Paternal]

Front 455

define the genetic term ANTICIPATION

Back 455

Severity of dz worsens or age onset of dz is earlier in succeeding generations (e.g., Huntington's dz)

Front 456

define the genetic term LOSS OF HETEROZYGOSITY

Back 456

If a pt inherits or develops a mutation in a tumor suppressor gene, the complimentary allele must be deleted/mutated before CA develops. This is not true of oncogenes

Front 457

define the genetic term DOMINANT NEGATIVE MUTATION

Back 457

exerts a DOMINANT EFFECT. A heterozygote produces a nonfxnl altered protein that also prevents the normal gene product from funcioning

Front 458

define the genetic term LINKAGE DISEQUILIBRIUM

Back 458

Tendency for certain alleles at 2 linked loci to occur together more often than expected by chance. Measured in a population, not in a family, and often varies in different populations

Front 459

define the genetic term MOSAICISM

Back 459

occurs when cells in the body have different genetic makeup (e.g. lyonization--random X inactivation in females)

Front 460

define the genetic term LOCUS HETEROGEITY

Back 460

Mutations at different loci can produce the same phenotype (e.g., albinism

Front 461

Hardy-Weinberg law assumes (4)

Back 461

1) there is no mutation occurring at the locus
2) there is no selection for any of the genotypes at the locus
3) Mating is completely random
4) There is no migration into or out of the population

Front 462

If a population is in Hardy-Weinberg equilibrium. p and q are separate allele. 2pq=heterozygote prevalence.

allele prevalence is?
disease prevalence is?

Back 462

p+q=1
p2 + 2pq +q2 =1

Front 463

this mode of inheritance looks like this [p.107]







Often due to defects in sxl genes. Many generations, both male and female, affected. It is often pleiotropic and, in many cases, present clinically after puberty. Family hx is crucial to dx

Back 463

Autosomal dominant

Front 464

this mode of inheritance looks like this [p.107]







25% of offspring from 2 carrier parents are affected. Often due to enzyme deficiencies. Usually seen in only 1 generation. Commonly more severe. Pts often present in childhood.

Back 464

autosomal recessive

Front 465

this mode of inheritance looks like this [p.107]







Sons of heterozygous mothers have a 50% chance of being affected. No male-to-male transmission. Commonly more severe in males. Heterozygous females may be effected.

Back 465

X linked recessive

Front 466

this mode of inheritance looks like this [p.107]







transmitted through both parents. Either male or female offspring of the affected mother may be affected, while ALL female offspring of the affected father are diseased. e.g., Hypophosphatemic rickets.

Back 466

X linked dominant

Front 467

this mode of inheritance looks like this [p.107]







transmitted only through mother. All offspring of affected females may show signs of dz. e.g., Leber's hereditary optic neuropathy.

Back 467

mitochondrial inheritance

Front 468

This autosomal dominant dz, is ALWAYS BILATERAL, there is a massive enlargement of kidneys due to multiple large cysts. Pts present with pain, hematuria, hyperension, progressive renal failure. 90% of cases are due to mutation in APKD1 (chromosome 16). Associated w/ polycystic liver dz, berry aneurysms, mitral valve prolapse. Juvenile form is recessive

Back 468

Adult Polycystic Kidney Dz

Front 469

This autosomal dominant dz, is characterized by elevated LDL owing to defective or absent LDL receptor. Heterozygotes (1:1500) have cholesterol~300mg/dl. Homozygotes (very raare) have cholesterol ~700+mg/dl, severe atherosclerotic dz early in life, and tendon xanthomas (classically in the Achilles tendon); MI may develop before age 20.

Back 469

Familial hypercholesterolemia (hyperlipidemia type IIA)

Front 470

This fibrillin gene mutation results in connective tissue disorders. It results in skeletal abnormalities--tall with long extremities (arachnodactylyl), hyperextensive joints, and long, tapering fingers and toes.
CV--cystic medial necrosis of aorta leading to aortic incompetence and dissecting aortic aneurysms. Floppy mitral valve.
Ocular-subluxation of lenses

Back 470

Marfan's syndrome

Front 471

This autosomal dominant dz, is characterized by cafe-au-lait spots, neural tumors, Lisch nodules (pigmented iris hamartomas). Also marked by skeletal d/o (e.g., scoliosis), pheochromocytoma, and increased tumor suceptibility. On long arm of chromosome 17

Back 471

Neurofibromatosis type 1 (von Recklinghausen's dz)

mneu: chrom 17-17 letters in von Recklinghausen

Front 472

This autosomal dominant dz, is characterized by bilateral acoustic neuroma, optic pathway gliomas, juvenile cataracts.

Back 472

Neurofibromatosis type 2

Front 473

Neurofibromatosis type 2 is on this gene on this chromosome

Back 473

NF2 gene on chrom 22

Front 474

This autosomal dominant dz, is characterized by facial lesions (adenoma sebaceum), hypopigmented "ash leaf spots" on skin, cortical and retinal hamartomas, seizures, mental retardation, renal cysts, cardiac rhabdomyomas. Incomplete penetrance, variable presentration.

Back 474

Tuberous sclerosis

Front 475

This autosomal dominant dz, is characterized by hemangioblastomas of retina/cerebellum/medulla; about half of affected individuals develop multiple bilateral renal cell carcinomas and other tumors.

Back 475

Von Hippel-Lindau dz

Front 476

Von Hippel-Lindau dz is associated with deletion of this gene on this chromosome

Back 476

VHL gene (tumor suppressor) on chromosome 3 (3p)

mneu: VHL=3 words=chrom 3

Front 477

This autosomal dominant dz, is characterized by depression, progressive dementia, choreiform movements, caudate atrophy and decreased levels of GABA and ACH in the brain. Symptoms manifest in affected individuals between the ages of 20 and 20.

Back 477

Huntington's dz

Front 478

Huntington's dz gene is located on this chromosome. It is a _____ repeat d/o

Back 478

chrom 4
triplet repeat

mneu: "Hunting 4 food"

Front 479

This autosomal dominant dz, is characterized by the colon becoming covered with adenomatous polyps after puberty. Progresses to cancer unless resected.

Back 479

familial adenomatous polyposis

Front 480

familial adenomatous polyposis is a deletion of this chromosome

Back 480

5

mneu: 5 letters in "polyp"

Front 481

This autosomal dominant dz, is characterized by spheroid erythrocytes; hemolytic anemia; increased MCHC. Splenectomy is curative

Back 481

hereditary spherocytosis

Front 482

This autosomal dominant dz, is characterized by autosomal-dominant cell-signaling defect of fibroblast growth factor (FGF) receptor 3. Results in dwarfism; short limbs; but head and trunk are normal size

Back 482

achondroplasia

Front 483

name 5 autosomal-recessive dzs

Back 483

CF, albinism, alpha1 antitrypsin deficiency, PKU, thalassemias, sickle cell anemia, glycogen storage dz, mucopolysaccharidosis (except Hunter's), sphingolipidosies (except Fabry's), infant polycystic kidney dz, hemochromatosis

Front 484

CF has this inheratance

Back 484

autosomal recessive

Front 485

what is the gene and chromosome of CF

Back 485

CFTR on chromosome 7

Front 486

what is the defective channel in CF that results in secretion of abnormally thick mucus that plugs lungs, pancreas, and liver.

Back 486

Cl-

Front 487

the recurrent pulmonary infections in CF are often due to these 2 bugs

Back 487

pseudomonas and S. aureus.

Front 488

this CF complication results in malabsorption and steatorrhea

Back 488

pancreatic insufficiency

Front 489

CF can cause this in this in newborns

Back 489

meconium ileus

Front 490

how do you dx CF

Back 490

incresed concentration of Cl-ions in a sweat test.

Front 491

CF can cause this in males due to absent vas deference

Back 491

infertility

Front 492

these vitamen deficiencies can be present in CF. It may present as failure to thrive in infancy

Back 492

ADEk

Front 493

CF is the most common lethal genetic dz in this racial group

Back 493

caucasians

Front 494

in CF this tx will loosen mucous plugs

Back 494

N-acetylcystein

Front 495

Give 5 X-linked recessive disorders

Back 495

fragile X, duchenne's muscular dystorphy, hemophilia A & B, Fabry's, G6PD deficiency, Hunter's syndrome, ocular albinism, Lesch-Nyhan syndrome, Bruton's agammaglobinemia, Wiskott-Aldrich syndrome

Front 496

T or F. Female carriers of X-linked recessive d/o are rarely affected because of random inactivation of X chromosomes in each cell

Back 496

T

Front 497

In this X-linked d/o that begins before 5 y/o, weakness begins in the pelvic girdle muscles and progresses superiorly. YOu may see pseudohypertrophy of calf muscles due to fibrofatty replacement of muscle; cardiac myopathy. Often times kids will use the Gower's manuver, requiring assistance of the upper extremities to stand up, is characteristic (indicates proximal lower limb weakness)

Back 497

Duchenne's muscular deficiency

Front 498

Duchenne's muscular deficiency is an X linked d/o that results from a frame-shift mutation that deletes this gene which leads to accelerated mm breakdwon.

Back 498

dystrophin gene

mneu: Duchenne's = Deleted Dystrophin

Front 499

In this d/o the mutation of the dystrophin gene is less sever than Duchenne's

Back 499

Becker's

Front 500

fragile x syndrome is an x-linked defect affecting the methylation and expression of the ____ gene

Back 500

FMR1

Front 501

how common is fragile X

Back 501

commmon
2nd most common cause of mental retardation
most common cause is down sydnrome

Front 502

give some PE findings of fragile X

Back 502

macro-orchidism (enlarged testes), long face w/ large jaw, large everted ears, and autism

mneu: Fragile X=eXtra-large testes, jaw, ears

Front 503

fragile X syndrome is a ______ repeat d/o (CGC)n that may show genetic anticipation (germlike expansion in females).

Back 503

triplet

Front 504

Give 3 trinucleotide repeat expansion dz

Back 504

HUNTINGton's dz, MYotonic dystrophy, FRIEDreich's ataxia, frafile X syndrome.

mneu: TRY (trinucleotide) HUNTING for MY FRIED eggs (X)

Front 505

trinucleotide repeat expansion dz may show this which refers to increased disease severity and age of severity in successive generations

Back 505

anticipation

Front 506

Give 5 common congenital malformations

Back 506

1) heart defects
2) hypospadias
3) cleft lip
4) congenital hip dislocation
5) spina bifida
6) Anencephaly
7) Pyloric stenosis

Front 507

this common congenital malformation is associated with projectile vomiting

Back 507

pyloric stenosis

Front 508

give 3 autosomal trisomies

Back 508

down syndrome
edwards' syndrome
patau's syndrome

Front 509

give the genetics of Down syndrome

Back 509

trisomy 21

Front 510

how common is down syndrome

Back 510

most common chromosomal d/o and cause of congenital mental retardation

Front 511

give some physical exam findings of down syndrome

Back 511

mental retardation, flat facial profile, prominant epicathal folds, simian crease, duodenal atresia, congenital heart dz (most common malformation is septum primum-type ASD due to endocardial cushion defects).

Front 512

what dzs are people w/ down syndrome at risk for as they get older

Back 512

alzheimer's dz (>35 y/o)
increase risk of ALL

Front 513

give tips off in utero that a baby may be trisomy 21

Back 513

decreased levels of alpha fetoprotein, inceased levels of beta hCG, increased nuchal translucency

Front 514

95% of cases of trisomy 21 are due to this type of nondisjxn of homologous chromosomes

Back 514

meiotic

4% of cases due to robertsonian translocation
1% due to Down mosaicism (no maternal association)

Front 515

What is the risk of down syndrome in women < 20 y/o?
>45 y/o

Back 515

1:1500
1:25

Front 516

children with this autosomal trisomy have severe mental retardation, rocker bottom feet, low-set ears, micrognathia (small jaw), congenital heart dz, clenched hands, prominent occiput. Death usually occcurs within 1 year of birth

Back 516

Edwards' syndrome
(trisomy 18)
1:8000

mneu: Election age (18)

Front 517

children with this autosomal trisomy have severe mental retardation, microphthalmia, microcephaly, cleft lip/palate, abnormal forebrain sxs, polydactyly, congenital heart dz. Death usually occurs w/in 1 year of birth

Back 517

Patau's syndrome
(trisomy 13)
1:6000

mneu: Pubety (13)

Front 518

image p. 110 nondisjxn

Back 518

--

Front 519

findings of this d/o include microcephaly, severe mental retardation, high ptiched crying/mewing, epicanthal folds, cardiac abnormalities

what is the congenital deletion

Back 519

short arm of chromosome 5
(46,XX or XY, 5p)

Cri-du-chat syndorme

Front 520

Cleft palate, Abnormal facies, Thymic aplasia (T-cel deficiency), Cardiac defects, Hypocalcemia (secondary to parathyroid aplaisia)

Back 520

22q11

CATCH-22

Front 521

22q11 has variable presentation as these 2 syndromes

Back 521

DiGeorge Sydnrome (thymic, parathyroid, and cardiac defects) or velocardiofacial syndrome (palate, facial, and cardiac defects)

Front 522

what are the fat soluble vitamens

Back 522

ADEK

Front 523

this fat soluble vitamen is key in vision

Back 523

A

Front 524

this fat soluble vitamen is key for bone calcification and Ca+ homeostasis

Back 524

D

Front 525

this fat soluble vitamen is key in clotting

Back 525

K

Front 526

this fat soluble vitamen is a key antioxident

Back 526

E

Front 527

thiamine

Back 527

B1

Front 528

riboflavin

Back 528

B2

Front 529

niacin

Back 529

B3

Front 530

this water soluble viatamen is key for blood and neural development

Back 530

folate

Front 531

this fat soluble vitamen is key for the CNS and blood

Back 531

B12 (cobalamin)

Front 532

pyridoxine/Pyridoxal/Pyridoxamine

Back 532

B6

Front 533

the absorption of fat soluble vitamens is dependent on these 2 organs

Back 533

gut(ilium) and pancreas

Front 534

is toxicity more common in water soluble or fat soluble vitamens

Back 534

fat

Front 535

malabsorption syndromes (steatorrhea), such as cystic fibrosis and sprue, or mineral oil intake can cause these vitamin deficiencies

Back 535

fat

Front 536

Water soluble vitamens all wash out easily from the body except this vitamen that is stored in the liver

Back 536

B12

Front 537

B1

Back 537

thiamine: TTP

Front 538

B2

Back 538

riboflavin: FAD, FMN

Front 539

B3

Back 539

niacin: NAD+

Front 540

B5

Back 540

Pantothenate: CoA

Front 541

B12

Back 541

cobalamin

Front 542

C

Back 542

ascorbic acid

Front 543

pt presents with dermatitis, glossitis, and diarrhea. What vit deficiencies

Back 543

B complex

Front 544

this vitamen is a constituent of visual pigments (retinal)

Back 544

A

mneu: RETINOL is vitamen A, so think RETIN-A (used topically for wrinkles and acne)

Front 545

give 3 symptoms of vit A deficiency

Back 545

night blindness, dry skin, impared immune response

Front 546

give 3 symptoms of vit A excess

Back 546

arthralgias, fatigue, headaches, skin changes, sore throat, alopecia

Front 547

this vitamen fxs in thiamine pyrophosphate, a cofactor for oxidative carboxylation of alpha-keto acids (pyruvate, alpha ketogluterate) and a cofactor for transketolase in the HMP shunt

Back 547

vitamen B1 (thiamine)

Front 548

give 2 conditions that can result from vit B1 (thiamine) deficiency

Back 548

Beriberi and Wernicke-Korsakoff syndrome

mneu: Ber1Ber1

Front 549

this type of beriberi is characterized by polyneuritis and mm wasting

Back 549

dry

Front 550

this type of beriberi is characterized by high-output cardiac failure (dilated cardiomyopathy, edema

Back 550

Wet

Front 551

this vitamen is a cofactor in oxidation and reduction (e.g., FADH2)

Back 551

vitamen B2 (riboflavin)

Front 552

give a few signs of vit B2 (riboflavin) deficiency

Back 552

angular stomatitis, cheilosis, corneal vasculation

mneu: the 2 C's

Front 553

FAD & FMN are derived from this vitamen

Back 553

riboFlavin

Front 554

B2=___ATP

Back 554

2

Front 555

this vitamen is a constituent of NAD+, NADP+ (used in redox reactions). Derived from tryptophan using vit B6

Back 555

vitamen B3 (niacin)

Front 556

give the 3 Ds of Pellagra

Back 556

diarrhea, dermatitis, dementia (also beefy glossitis)

Front 557

deficiency of vit B3 (niacin can be caused by hartnup dz. Why?

Back 557

decreased tryptophan absorption

Front 558

deficiency of vit B3 (niacin can be caused by malignant carcinoid syndrome. Why?

Back 558

increased tryptophan metabolism

Front 559

deficiency of vit B3 (niacin can be caused by INH. Why

Back 559

decrease vit B6

Front 560

NAD is derived from _______

Back 560

Niacin

Front 561

B3=__ATP

Back 561

3

Front 562

this vitamne fxs as a constituent of CoaA (a cofactor for acyl transfors) and component of fatty acid synthase.

Back 562

vitamen B5 (pantothenate)

mneu: Pantothen-A is in CoA

Front 563

give some signs of vit B5 deficiencies

Back 563

dermatitis, enteritis, alopecia, adrenal insufficiency

Front 564

this vitamen fxs converted to pyridoxal pyridoxal phosphate, a cofactor used in transamination (e.g., ALT & AST), decarboxylation, and heme synthesis

Back 564

vitamen B6 (pyridoxine)

Front 565

give signs of vit B6 (pyridoxine)

Back 565

convulsions, hyperirritability (deficiency inducible by INH and oral contraceptives), peripheral neuropathy.

Front 566

this vitamen is a cofactor for homocysteine methylation (transfers CH3 groups as methylcobalamin) and methylmalonyl-CoA handling.

Back 566

vitamin B12 (cobalamin)

Front 567

vitamen B12 is stored primarily in this organ

Back 567

liver

Front 568

vitamme B12 is synthesized only by microorganisms and is found only in this type of food

Back 568

animal products.

Front 569

vitamen B12 is usually caused by malabsorption-- give a few examples

Back 569

sprue, enteritis, Diphyllobothrium latum

Front 570

vitamen B12 can be caused by pernicious anemia which is caused by a lack of this

Back 570

intrinsic factor

Front 571

vit B12 can be caused by absense of terminal ileum for example in this GI dz

Back 571

chron's dz

Front 572

this test is used to detect vit B12

Back 572

schillng test

Front 573

abnormal myelin is seen in B12 deficiency, possibly due to decreased_______ or increased ________ (from metabolism of accumulated methylmalonyl-CoA)

Back 573

methionine
methylmalonic acid

Front 574

this is the most common vitamen deficiency in the US

Back 574

folic acid

Front 575

this vit fxs in coenzyme (tetrahydrofolate) for 1 carbon transfer, involved in methylation reactions. It is important for synthesis of nitrogenous bases in DNA and RNA

Back 575

folic acid

Front 576

give some signs and symptoms of folic acid deficiencies

Back 576

macrocytic, megaloblastic anemia (often no neuro symptoms, as opposed to vitB12

Front 577

what kind of foods are high in folate

Back 577

green leafy veggies

mneu: FOLate from FOLiage

Front 578

supliment folic acid when

Back 578

early pregnancy-reduces neural tube defects

Front 579

PABA is the folic acid precursor in bacteria. these antimicrobials work because they are PABA analogs

Back 579

sulfa drugs and dapsone

Front 580

this vitamen is a cofactor for carboxylations:
1) Pyruvate ->oxaloacetate
2) Acetyl-CoA ->malonyl-CoA
3) Proprionyl-CoA ->methhylmalonyl CoA

Back 580

biotin

Front 581

biotin deficiency can be caused by using these drugs or eating these

Back 581

antibiotics
raw eggs

mneu: AVIDin in egg whites AVIDly binds biotin

Front 582

give some symptoms of biotin deficiency

Back 582

dermatitis, enteritis

Front 583

give some signs of vit C deficiency

Back 583

scurvy--swollen gumbs, bruising, anemia, poor wound healing

Front 584

vit C is necessary for hydroxylation of _____ and _____ in collagen synthesis

Back 584

proline
lysine

mneu: vit C Cross-links collagen. British sailors carried limes to prevent scury (origin of word "limey"

Front 585

vit C facilitates absorption of this nutrient

Back 585

Fe++
(keeps it in a reduced state-more absorpable)

Front 586

vit C is necassary as a cofactor for dopimine in conversion to this neurotransmitter

Back 586

NE

Front 587

this is the form of vit D found in milk

Back 587

D2 (ergocalciferol)

Front 588

this is the form of vit D formed in sun-exposed skin

Back 588

D3 (cholecalciferol)

Front 589

this is the storage form of vit D

Back 589

25-OHD3

Front 590

this is the active form of vit D

Back 590

25-(OH)2D3

Front 591

give some signs of vit D deficiency

Back 591

rickets in children (bending bones), osteomalacia in adults (soft bones) and hypocalcemic tetany

Front 592

what is the fx of vit D

Back 592

increase intestinal absorption of Ca++ & phosphate

Front 593

what are some signs of vit D excess

Back 593

hypercalcemia, loss of appetite, stupor.

Front 594

what dz might you see excess vit D in

Back 594

sarcoidosis
(dz where epitheliod macrophages convert vitD into its active form

Front 595

vit E deficincy results in a fragility of these blood cells

Back 595

erythrocytes

mneu: vit E is for Erythrocytes

Front 596

what is the fx of vit E

Back 596

it is an antioxidant that protects erythrocytes from hemolysis

Front 597

this vitamen funcitons to catalyze gamma-carboxylation of glutamic acid residues on various proteins concerned with blood clotting.

Back 597

vit K

mneu: K is for Koagulation

Front 598

How is vit K synthesized. What drugs can cause vitK deficiency

Back 598

intestinal flora
prolonged use of broad spectrum antibiotics

Front 599

vit K deficiency can result in this problem in neonates (what would PT, PTT, & bleeding time be)

Back 599

neonatal hemorrhage w/ increased PT and increased aPTT but normal bleeding time

Front 600

what are the vit K dependent clotting factors

Back 600

II,VII,IX,X and protein C & S

Front 601

this drug is a vitK antagonist

Back 601

Warfarin

Front 602

give a few signs of zinc deficiency

Back 602

delayed wound healing, hypogonadism, decreased axillary, facial, and pubic hair. It may predispose to alcoholic cirrhosis.

Front 603

etoh metabolism [p.115]

Back 603

--

Front 604

this enzyme catalyzes EtOh to acetaldehyde and reduces NAD+ to NADH

Back 604

alcohol dehydrogenase

Front 605

this enzyme catalyzes acetaldehyde to Acetate and reduces NAD+ to NADH

Back 605

acetaldehyde dehydrogenase

Front 606

what is the limiting reagent in etoh metabolism

Back 606

NAD+

Front 607

what is the kinetics of alcohol dehydrogenase

Back 607

zero order

Front 608

how does disulfram (antabuse)work.

Back 608

inhibits acetaldehyde dehydrogenase--acetaldehyde accumulates contributing to hangover symptoms

Front 609

describe ethanol hypoglycemia

Back 609

ethanol metabolism increases NADH/NAD+ ratio in the liver, causing diversion of pyruvate to lactate and OAA to malate, thereby inhibiting gluconeogenesis and leading to hypoglycemia.

Front 610

altered NADH/NAD+ ratio in the liver is responsible for this change seen in chronic alchololics

Back 610

hepatic fatty change (hepatocellular steatosis)-shunting away from glycolysis and toward fatty acid synthesis

Front 611

image. p. 115 etoh hypoglycemia

Back 611

--

Front 612

this is protein malnutrition resulting in skin lesions, edema, liver malfxn (fatty change). Clinical picture is a small child w/ a swollen belly

Back 612

kwashiorkor

mneu: resutls from a protein deficient MEAL
Malabsorption
Edema
Anemia
Liver (fatty

Front 613

this results from protein-calorie malnutrition resulting in tissue wasting

Back 613

marasmus