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613 Cards in this Set
- Front
- Back
full-term neonate of uneventful delivery becomes mentally retarded and hyperactive and has a musty odor. What is the d?
|
PKU
|
|
Stressed executive comes home from work, consumes 7 or 8 martinis in rapid succession before dinner, and becomes hypoglycemic. What is the mechanism?
|
NADH increase prevents gluconeogenesis by shunting pyruvate and oxaloacetate to lactate and malate
|
|
2 y/o girl has an increase in abd girth, failure to thrive and skin and hair depigmentation. What is the dx
|
kwashiorkor
|
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alcoholic develops a rash, diarrhea, and altered mental status. What is the vitamen deficiency
|
vit B3 (pellagra)
|
|
51 y/o man has black spots in his sclera and has noted that his urine turns black upon standing. What is the dx
|
alkaptonuria
|
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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?
|
familial hypercholesterolemia; LDL receptor
|
|
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.
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Chromatin sx--image 77
note: Think of beads on a string |
|
this type of chromatin is condensed, transcriptionally inactive
|
heterochromatin
|
|
this type of chromatin is less condensed, transcriptionally active
|
euchromatin
eu=true, "truely transcribed." |
|
purines are _____ & _____ and have _____ ring/s.
pyramidines are _____,_____, &______ |
A,G (2 rings)
C,T,U (1 ring) mneu: PURe As Gold: PURines. CUT the PY (pie) |
|
Guanine has a _______
|
ketone
|
|
Thymine has a ______
|
methyl
mneu: THYmine has a meTHYl |
|
Deamination of cytosine makes a _____
|
uracil
|
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uricil is found in this nucleic acid
|
RNA
|
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thymine is found in this nucleic acid
|
DNA
|
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This bond has 3 H bonds and is therefore stronger that this bond which only has 2 H bonds
|
G-C bond > A-T
|
|
nucleotides with a higher G-C means a higher this
|
melting temperature
|
|
nucleotides are linked by this type of bond
|
3'-5' phosphodiesterase bond
|
|
image p. 77 purines (A,G)
|
--
|
|
image p. 77 pyramidine (C,T,U)
|
--
|
|
this refers to substituting purine for purine or pyrimidine for pyrimidine
|
transition
mneu: TransItion=Identical types |
|
this refers to substituting purine for a pyrimidine or pyrimidine for purine
|
Transversion
mneu: TransVersion=conVersion between types |
|
this feature of the genetic code refers to the fact that each codon specifies only 1 amino acid
|
unambiguous
|
|
this feature of the genetic code refers to the fact that more than 1 codon may code for the same amino acid
|
degenerate
|
|
the genetic code is commaless, nonoverlapping (except some viruses) T or F
|
T
|
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the genetic code is universal (exceptions include mitochondria, archaeobacteria, mycoplasma, and some yeast) T or f
|
T
|
|
this mutation in dna often involves the same AA, it is often a base change in the 3rd position of codon (tRNA wobble).
|
silent
|
|
this mutation in dna involves a changed AA (conservative-new AA is similar in chemical sx)
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missense
|
|
this mutation in dna often involves a change resulting in an early STOP CODON
|
nonsense
mneu: stop the nonsense |
|
this mutation in dna often involves a change resulting in misreading of all nucleotides downstream, usually resulting in a truncated protein
|
frame shift
|
|
Single origin of replication in prokaryotic DNA replication by DNA polymerases refers to ________ DNA synthesis on the leading strand and _______ on the lagging strand
|
Continuous
Discontinuous (Okazaki fragments) |
|
DNA polymerase III has ____ synthesis and proofreads with ______ exonuclease
|
5'->3'
3'->5' |
|
DNA polymerase I excises RNA primer with ____ exonuclease
|
5'-3'
|
|
these create a nicks in the helix to relieve supercoils
|
DNA topoisomerase
|
|
this makes an RNA primer on which DNA polymerase III can initiate replication
|
Primase
|
|
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.
|
DNA polymerase III
|
|
this degrades RNA primer
|
DNA polymerase I
|
|
this seals
|
DNA ligase
|
|
image p. 78 Prokaryotic DNA replication and DNA polymerases
|
--
|
|
eukaryotic genome has _____ origins of replications
|
multiple
|
|
replication begins at a consensus sequence of ____ base pairs
|
AT
|
|
eukaryotes have seperate polymerases ______ for synthesizing RNA primers, leading-strand DNA, mitochondrial DNA, and DNA repair
|
(αβδγε)
|
|
describe DNA repair of single strand
|
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.
|
|
DNA repair defects regarding skin sensitivity to UV light results in this dz
|
xeroderma pigmentosum
|
|
DNA repair defects regarding x-rays results in this dz
|
ataxia-telangiectasia
|
|
DNA repair defects regarding radiation results in this dz
|
Bloom's syndrome
|
|
DNA repair defects regarding cross-linking agents results in this dz
|
Fanconi's anemia
|
|
xeroderma pigmentosum is this inheritance
|
autosomal recessive
|
|
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.
|
thymidine dymers [image p. 79]
|
|
XP is associated w/ these things
|
dry skin, melanoma, & other CA
|
|
DNA & RNA are both synthesized in this direction
|
5' ->3'
|
|
The 5' of the incoming nucleotide bears the ______ . The 3' hydroxyl of the nascent chain is the target
|
triphosphate (energy source for bond
mneu: Imagine the incoming nucleotide bringing a gift (triphosphate) to the 3' host. "BYOP (phosphate) from 5 to 3" |
|
Protein synthesis procedes in this direction
|
5' ->3'
|
|
amino acids are linked in this way
|
N to C
|
|
mRNA is the _____ type of RNA
rRNA is the most _____ type of RNA tRNA is the ______ type of RNA |
massive, Rampant, Tiny
|
|
In prokaryotes this makes all 3 kinds of RNA
|
RNA polymerase
|
|
In eukaryotes, ________ makes rRNA
|
RNA polymerase I
mneu: I,II, III are numbered as their products are used in protein sythesis |
|
In eukaryotes, ________ makes mRNA
|
RNA polymerase II
mneu: I,II, III are numbered as their products are used in protein sythesis |
|
In eukaryotes, ________ makes tRNA
|
RNA polymerase III
mneu: I,II, III are numbered as their products are used in protein sythesis |
|
eukaryotic RNA polymerase has no ________ fx, but can initiate chains
|
proofreading fx
|
|
RNA polymerase II opens DNA at _________
|
promoter site (A-T rich upstream sequence ---TATA and CAAT).
|
|
this poison is found in death cap mushrooms and works by inhibiting RNA polymerase II
|
alpha-amantin
|
|
what is the mRNA initiation codon
|
AUG (or rarely GUG)
mneu: AUG inAUGurates protien synthesis |
|
in eukaryotes AUG codes for this, which may be removed before translation is completed
|
methionine
|
|
in prokaryotes the initial AUG codes for ________
|
formyl-methionine (fmet)
|
|
Give stop codons
|
UGA,UAA,UAG
mneu: U Go Awau, U Are Away, U Are Gone |
|
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
|
promotor
|
|
promoter mutation commonly results in this
|
dramatic decrease in amount of gene transcribed
|
|
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
|
enhancer
|
|
In the regulation of gene expression, this is the site where negative regulators (repressors) bind.
|
operator
|
|
These contain actual genetic information coding for proteins
|
exons [image p. 80]
mneu: INtrons stay IN the nucleus, whereas EXons EXit and are EXpressed |
|
These are intervening noncoding segments of DNA
|
introns
mneu: INtrons stay IN the nucleus, whereas EXons EXit and are EXpressed |
|
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.
|
small nuclear ribonucleoprotein particles (snRNP)
|
|
RNA processing in eukaryotes occurs in the _______, after transcription.
|
nucleus
|
|
only _______ is transported out of the nucleus
|
processed RNA
|
|
describe RNA processing in eukaryotes (3 steps)
[image p. 80] |
1) capping on 5' end (7-methyl-G)
2) Polyadenylations on 3' end (-200 As) 3) Splicing out of introns |
|
what is the initial transcript of RNA processing (eukaryotes) called
|
heterogeneous nuclear RNA (hnRNA)
|
|
capped and tailed transcript is called _______
|
mRNA
|
|
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.
|
3'
|
|
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.
|
Animoacyl-tRNA synthetase
|
|
A mischarged tRNA reads usual codon but inserts the ______
|
wrong AA
|
|
___________ and binding of charged tRNA to the codon are responsible for accuracy of amino acid selection
|
aminoacyl-tRNA synthetase
|
|
image tRNA charging [p. 81]
|
--
|
|
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
|
tRNA wobble
|
|
In ribosome protein synthesis Met sits in the ______ site
|
P site(peptidyl)
|
|
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.
|
A site (aminoacyl)
|
|
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
|
E
P |
|
ATP is used for this with tRNA
|
Activation (charging)
|
|
GTP is used for this with tRNA
|
Gripping and Going places (translocation)
|
|
enzyme kinetics [image p. 82]
|
--
|
|
the lower the Km, the _____ the affinity
|
higher
|
|
this type of inhibitor resembles substrate
|
competitive inhibitor
|
|
this type of inhibitor can be overcome by increase concentration of substrate
|
competitive inhibitor
|
|
this type of inhibitor binds to the active site
|
competitive inhibitor
|
|
competitive inhibitors have this effect on Vmax
|
no effect
|
|
non0competitive inhibitors have this effect on Vmax
|
decreased
|
|
competitive inhibitors have this effect on Km
|
increased
|
|
Noncompetitive inhibitors have this effect on Km
|
no effect
|
|
enzyme regulation methods:
alter this for increased or decreased synthesis or destricution effects |
enzyme concentrations
|
|
enzyme regulation methods: phosphorylation effects
|
covalent modification
|
|
enzyme regulation methods:
proteolytic modification effects |
zymogen
|
|
enzyme regulation methods:
allosteric regulation effects |
feedback inhibition
|
|
enzyme regulation methods:
steroid hormones effects |
transcriptional regulation
|
|
Give the Cell cycle synthesis phases and what they stand for
|
M (mitosis: prophase-metaphase-anaphase-telophase)
G1 (growth) S (synthesis of DNA) G2 (growth) Go (quiescent G1 phase) |
|
these 2 phases are of variable duration
|
G1 & Go
|
|
this is usually the shortest phase
|
M
|
|
Most cells are in this phase
|
Go
|
|
rapidly dividing cells have a shorter ____ phase
|
G1
|
|
image- cell cycle phases p. 82
|
--
|
|
this is the site of synthesis of secretory (exported proteins and of N-linked oligosaccharide addition to many proteins
|
Rough endoplasmic reticulum (RER)
|
|
Mucus-secreting goblet cells of the small intestine and antibody-secreting plasma cells are rich here
|
RER
|
|
this is the site of steroid synthesis and detoxification of drugs and poisons
|
smooth endoplasmic reticulum (SER)
|
|
Liver hepatocytes and steroid hormone-producing cells of the adrenal cortex are rich in _____
|
SER
|
|
Functions of Golgi apparatus
|
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. |
|
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.
|
mannose-6-phosphate
|
|
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.
|
microtubules
|
|
this cell sxs are involved in slow axoplasmic transport in neurons
|
microtubules
|
|
name 5 drugs that act on microtubules
|
1) mebendazole/thiabendazole (antihelminthic)
2) taxol (anti Br CA 3) Griseofulvin (antifungal) 4) Vincristine/Vinblastine (anti-cancer) 5) Colchicine (anti gout |
|
This syndrome is due to a microtubule polymerization defect resulting in decreased phagocytosis
|
Chediak-Higashi syndrome
|
|
this cell sx has 9 + 2 arrangement of microtubules
|
cilia
|
|
In cilia, this is an ATPase that links peripheral 9 doublets and causes bending of cilium by differential sliding of doublets
|
dynein
|
|
this syndrome is due to a dynein arm defect, resulting in immotile cilia
|
Kartagener's syndrome
|
|
dynein is
|
retrograde
|
|
kinesin is
|
anterograde
|
|
what are the 2 major components of plasma membranes
|
cholesterol (-50%)
phospholipids (-50%) there are also sphingolipids, glycolipids, and proteins. |
|
High cholesterol or long saturated fatty acid content results in this
|
increase melting temp.
|
|
this side of the membrane contains glycosylated lipids or proteins
|
noncytoplasmic side
|
|
T or F. The plasma membrane is an asymmetric, fluid bilater
|
T
|
|
This is a major component of RBC membranes, of myelin, of bile, and of surfactant. It is also used in the esterification of cholesteral.
|
Phosphatidylcholine
|
|
specific phosphatidylcholine used in esterification of chelesterol
|
LCAT is lecithin-cholesterol acyltransferase
|
|
specific phosphatidylcholine used in surfactant
|
DPPC= dipalmitoyl phosphatidylcholine
|
|
This is located in the plasma membrane w/ ATP site on the cytoplasmic side.
|
Na+K+ATPase (sodium pump)
|
|
For each ATP consumed, ___ Na+ go out and __ K+ come in.
|
3/2
|
|
During each cycle of the sodium pump this occurs
|
phosphorylation
|
|
This inhibits by blinding to K+ site.
|
Ouabain
|
|
These also inhibit the Na+K+ATPase causing increased cardiac contractility
|
cardiac glycosides (digoxin, digitoxin)
|
|
image sodium pump (p. 84)
|
--
|
|
G protein linked 2nd messengers [image p. 85]
|
--
|
|
This is the most abundant protein in the human body. It fxs to organize and strengthen extracellular matrix.
|
collagen
|
|
this type of collagen is 90% of collagen. It makes up BONE, tendon, skin, dentin, fascia, cornia, late wound repair
|
Type I
mneu: B Cool, Read Books type I: bONE |
|
this type of collagen makes up CARTILAGE (including hyaline), vitreous body, nucleus pulposis
|
Type II
mneu: B Cool, Read Books type II: carTWOlage |
|
this type of collagen makes up skin, blood vessels, uterus, fetal tissue, granulation tissue
|
Type III (reticulin)
mneu: B Cool, Read Books |
|
this type of collagen makes up basement membrane or basal lamina
|
Type IV
mneu: B Cool, Read Books Type IV: under the floor (basement membrane |
|
This type of cartilage makes up the epiphyseal plate
|
Type X
|
|
collagen alpha chains are called
|
preprocollagen
|
|
preprocollagen is translated on this
|
RER
|
|
Inside fibroblast, collagen alpha chains or (preprocollagen) is usually this type of polypeptide
|
Gly-XY (X & Y are proline, hydroxyproline or hydroxylysine)
|
|
inside the the ER in fibroblasts hydroxylation of specific proline and lysine residues occurs. Hydroxylation requires this vitamen
|
C
|
|
Inside fibroblasts the golgi glycosylates the pro alpha chain lysine residues and formation of _______
|
procollagen (triple helix of 3 collagen chains)
|
|
these molecules are then exocytosed into into the extracellular space
|
procollagen
|
|
outside fibroblasts, procollagen peptidases cleave terminal regions of procollagen, transforming procollagen into insoluble ______
|
tropocollagen
|
|
Many staggered tropocollagen molecules are reinforced by covalent lysine-hydroxylysine cross linkage (by lysyl oxidase) to make
|
collagen fibrils
|
|
this syndrome results in faulty collagen synthesis causing:
1) hyperextensible skin 2) tendency to bleed (easy bruising) 3) hypermobile joints |
ehlers-danlos syndrome
|
|
Ehlers-Danlos syndrome is associated with this problem
|
berry aneurysms
|
|
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 |
osteogenesis imperfecta
|
|
What can osteogenesis be confused with
|
child abuse
|
|
what is the incidence of OI type I
|
1:10,000
|
|
what is the incidence of OI type II
|
0 - death in utero
|
|
Given the immunohistochemical stain give the cell type it stains for:
Vimentin |
Connective tissue
|
|
Given the immunohistochemical stain give the cell type it stains for:
Desmin |
muscle
|
|
Given the immunohistochemical stain give the cell type it stains for:
Cytokeratin |
epithelial cells
|
|
Glial fibrillary acid proteins (GFAP)
|
neuroglia
|
|
Neurofilaments
|
neurons
|
|
Give the site of metabolism: Fatty acid oxidation (B-oxidation)
|
mitochondria
|
|
Give the site of metabolism: acetyl-CoA production
|
mitochondria
|
|
Give the site of metabolism: Krebs cycle
|
mitochondria
|
|
Give the site of metabolism: glycolysis
|
cytoplasm
|
|
Give the site of metabolism: fatty acid synthesis
|
cytoplasm
|
|
Give the site of metabolism: HMP shunt
|
cytoplasm
|
|
Give the site of metabolism: protein synthesis (RER)
|
cytoplasm
|
|
Give the site of metabolism: steroid synthesis (SER)
|
cytoplasm
|
|
Give the site of metabolism: gluconeogenesis
|
both cytoplasm and mitochondria
|
|
Give the site of metabolism: urea cycle
|
both cytoplasm and mitochondria
|
|
Give the site of metabolism: heme synthesis
|
both cytoplasm and mitochondria
|
|
summary of pathways [p.87]
|
--
|
|
give the enzyme deficiency that would result in MILD galactosemia
|
galactokinase
|
|
give the enzyme deficiency that would result in SEVERE galactosemia
|
galactose-1-phosphate uridyltransferase
|
|
give the enzyme deficiency that would result in Von Gierke's
|
glucose-6-phosphatase
|
|
give the enzyme deficiency that would result in essential fructosuria
|
fructokinase
|
|
give the enzyme deficiency that would result in fructose intolerance
|
aldolase B
|
|
This is an adenine base + ribose + 3 phosphoryls. 2 phosphoanhydride bonds, 7 kcal/mol each
|
ATP
|
|
aerobic metabolism of glucose produces this manny ATP via the malate shuttle and this many ATP via G3P shuttle
|
38
36 |
|
Anaerobic glycolysis produces this many ATP per glucose molecule
|
2
|
|
How is ATP hydrolysis used
|
it is coupled to energetically unfavorable rxns
|
|
ATP image p [88]
|
--
|
|
Give the activated carrier for each molecule:
ATP |
phosphoryl
|
|
Give the activated carrier for each molecule: NADH, NADPH, FADH2
|
electrons
|
|
Give the activated carrier for each molecule: Coenzyme A, lipoamide
|
Acyl
|
|
Give the activated carrier for each molecule: biotin
|
CO2
|
|
Give the activated carrier for each molecule: tetrahydrofolates
|
1-carbon units
|
|
Give the activated carrier for each molecule: SAM
|
CH3 groups
|
|
Give the activated carrier for each molecule: TPP
|
Aldehydes
|
|
Give the activated carrier for each molecule: UDP-glucose
|
Glucose
|
|
Give the activated carrier for each molecule: CDP-choline
|
Choline
|
|
ATP + methionine -->
|
SAM
|
|
What does SAM do?
|
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 |
|
Regeneration of methionine (and thus SAM) is dependent on this vitamen
|
B12
|
|
give the signal molecule given its precursor: ATP ->
|
cAMP via adenylate cyclase
|
|
give the signal molecule given its precursor: GTP ->
|
cGMP via guanylate cyclase
|
|
give the signal molecule given its precursor: Glutamate ->
|
GABA via glutamate decarboxylase (requires vitamen B6
|
|
give the signal molecule given its precursor: choline->
|
ACH via choline acetyltransferase (ChAT)
|
|
give the signal molecule given its precursor: arachidonate->
|
prostaglandins, thromboxanes, leukotrienes via cyclooxygenase/ lipoxygenase
|
|
give the signal molecule given its precursor: fructose-6-P->
|
fructose 1,6-bis-P via phosphofructokinase (PFK), the rate-limiting enzyme of glycolysis
|
|
give the signal molecule given its precursor: 1,3BPG->
|
2,3-BPG via bisphosphoglycerate mutase
|
|
what are the 2 universal electron acceptors
|
Nicotinamides (NAD+,NADP+) and flavin nucleotides (FAD+)
|
|
NADPH is a procatabolicduct of this pathway
|
HMP shunt
|
|
NAD+ is generally used in _______ processes to carry reducing equivalents away as NADH
|
catabolic
|
|
NADPH is used in _____ processes (steroid and fatty acid synthesis) as a supply of reducing equivalents
|
anabolic
|
|
NADPH is used in these 3 ways:
|
1) anabolic processes
2) respiratory burst 3) P-450 |
|
image p. 89 -oxygen dependent respiratory burst
|
--
|
|
where is hexokinase found
|
throughout the body
|
|
where is glucokinase found
|
liver
mneu: gLucokinase in Liver |
|
describe the Km and Vmax of glucokinase in comparison to hexokinase
|
glucokinase has a lower affinity [higer Km] but higher capacity [ higher Vmax]
|
|
which one hexokinase or glucokinase is feedback inhibited by G6P
|
hexokinase
|
|
which one hexokinase or glucokinase phosphorylates excess glucose (e.g., after a meal) to sequester it in the liver as G6P
|
glucokinase
|
|
give the irreversible enzymes in glycolysis regulation
|
hexokinase/glucokinase
phosphofructokinase-1 (RLS) pyrovate kinase pyruvate dehydroginase |
|
hexokinase/glucokinase converts D-glucose into what?
what is this inhibited by? |
Glucose-6-P
Glucose-6-P(inh by product) |
|
phosphofructokinase-1 (RLS) converts fructose 6-phosphate into what?
what is it inhibited by? stimulated by? |
Fructose-1,6-BP
inh by: ATP, citrate stim by: AMP,Fructose-2,6-BP |
|
pyrovate kinase converts phosphoenolpyruvate into what?
what is it inhibited by? stimulated by? |
pyruvate
stim: fructose-1,6-BP inh: ATP, alanine |
|
pyruvate dehydroginase converts pyuvate into what?
what is it inhibited by? |
Acetyl CoA
inh: ATP, NADH Acetyl-CoA |
|
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
|
hemolytic anemia
|
|
why do glycolytic enzyme deficiencies result in hemolytic anemia
|
RBCs metabolize glucose anaerobically (no mitochondria) and thus depend solely on glycolysis
|
|
The pyruvate dehydrogenase complex contains 3 enzymes that require 5 cofactors. What are these cofactors.
|
1) pyrophosphate (B1, thyamine; TTP)
2) FAD (B2, riboflavin) 3) NAD (B3, niacin) 4) CoA (B5, pantothenate) 5. Lipoic acid |
|
Pyruvate dehydrogenase complex is similar to what other complex (same cofactors, similar substrate and action)
|
alpha ketoglutarate
|
|
give thee pyruvate dehydrogenate reaction.
|
pyruvate + NAD+ + CoA
-> acetyl CoA + CO2 + NADH |
|
pyruvate dehydrogenase complex is activated by exercise because it increases these three things
|
NAD+/NADH ratio
ADP Ca++ |
|
pyruvate dehydrogenase deficiency causes a backup of substrate which is?
|
pyruvate and alanine
|
|
pyruvate dehydrogenase deficiency results in this
|
lactic acidosis
|
|
pyruvate dehydrogenase deficiency is often seen in alcoholics due to a deficiency of this vitamen
|
B1
|
|
someone with a pyruvate dehydrogenase deficiency may present with this deficit
|
neurologic
|
|
what is the tx for pyruvate dehydrogenase deficiency
|
increase intake of ketogenic nutrients (e.g., high fat content or high lysine and leucine)
|
|
name the only purely ketogenic amino acids
|
lysine and leucine
|
|
image p. 90 pyruvate metabolism
|
--
|
|
how many ATP equivalents are needed to generate glucose from pyruvate
|
6
|
|
this AA serves as a carrier of amino groups form mm to liver
|
alanine
|
|
this can be used to replenish TCA cycle or in gluconeogenesis
|
oxaloacetate
|
|
This cycle transfers excess reducing equivalents from RBCs and mm to liver, allowing muscle to funcction anaerobically (net 2 ATP)
|
cori cycle
|
|
TCA cycle enzymes
|
Citrate
Isocitrate alpha-Ketogluterate Succinyl-CoA Succinate Fumarate Malate Oxaloacetate mneu: Can I Keep Selling Sex For Money, Officer? |
|
What does the TCA cycle produce per Acetyl-CoA?
how much do we multiply these numbers by if we are dealing with glucose? |
3NADH,
1FADH2 2CO2 1GTP 12 ATP 2x w/ glucose |
|
image TCA cycle p. 91
|
--
|
|
in the electron transport cha in 1 NADH gives how many ATP
|
3
|
|
in the electron transport cha in 1 FADH gives how many ATP
|
2
|
|
name 4 electron transport inhibitors that directly inhibit electron transport, causing a decrease of proton gradient and block ATP synthesis
|
rotenone, antimycin A, CN-, CO
|
|
This ATPase inhibitor directly inhibits mitochondrial ATPase, causing an increase of proton gradient, but no ATP is produceed because electron transport stops
|
oligomycin
|
|
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.
|
2,4 DNP
|
|
irreversible enzymes in gluconeogenesis
|
pyruvate carboxylase
PEP carboxykinase Fructose-1,6-biphosphatase Glucose-6-phosphate mneu: Pathway Produces Fresh Glucose |
|
pyruvate carboxylase is found here and converts this to this
It requires this & is activated by this |
mitochondria
pyruvate ->oxaloacetate biotin, ATP Acetyl-CoA |
|
PEP carboxykinase is found here and converts this to this
It requires this |
cytosol
oxaloacetate ->phosphoenolpyruvate GTP |
|
Fructose-1,6-biphosphatase is found here and converts this to this.
|
cytosol
fructose-1,6 bisphosphate ->fructose-6-P |
|
where does gluconeogenesis occur
|
liver, kidney, intestinal epithelium
note: mm cannot participate in gluconeogenesis |
|
deficiency of key gluconeogenic enzymes results in this
|
hypoglycemia
|
|
this dz is caused by a lack of glucose 6 phospatase in the liver
|
Von Gierke's
|
|
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 |
Pentose Phosphate Pathway (HMP shunt)
|
|
All pentose Phosphate Pathway (HMP shunt) reactions occur here
|
cytoplasm
|
|
Is ATP used or produced in Pentose Phosphate Pathway (HMP shunt)
|
no
|
|
give sites of Pentose Phosphate Pathway (HMP shunt)
|
all sites of fatty acid or steroid synthesis (e.g., lactating mammary glands, liver, adrenal cortex
|
|
this is the rate-limiting enzyme in HMP shunt (which yields NADPH)
|
G6PD
|
|
NADPH is necessary to keep this reduced, which in turn detoxifies free radicals and peroxides
|
glutathione
|
|
decreased NADPH in RBCs lead to this due to poor RBC defense against oxidizing agents (fava beans, sulfonamides, primaquine) and antituberculosis drugs
|
hemolytic anemia
|
|
G6PD deficiency is more prevelent amun this racial group
|
blacks
|
|
this sign of G6PD deficiency describes when hemoglobin precipitates within RBCs
|
Heinz bodies
|
|
G6PD deficiency has this inheritance
|
x-linked recessive
|
|
image p. 92 - G6PD deficiency
|
--
|
|
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 |
fructose intolerance
|
|
what is the tx for fructose intolerance
|
decrease intake of both fructose and sucrose (glucose + fructose)
|
|
this d/o involves a defect in fructokinases and is a benign, asymptomatic condition.
Symptoms: fructose appears in blood and urine. |
essential fructosuria
|
|
essential fructosuria is a deficiency in this enzyme
|
fructokinase
|
|
fructose intolerance is a deficiency in this enzyme
|
aldolase B
|
|
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 |
galactosemia
|
|
tx of galactosemia
|
exclude galactose and lactose (galactose + glucose) from diet
|
|
this enzyme deficiency causes galactosemia and galactosuria, galactosuria, galactitol accumulation if galactose is present in ddiet.
|
galactokinase deficiency
|
|
image p. 93 galactose metabolism
|
--
|
|
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 |
lactase deficiency
|
|
give the ketogenic essential amino acids
|
leucine, lysine
All essential amino acids: PriVaTe TIM HALL |
|
give the glucogenic/ketogenic essential amino acids
|
Ile, Phe, Trp
All essential amino acids: PriVaTe TIM HALL |
|
give the glucogenic essential amino acids
|
Met, Thr,Val, Arg, His
All essential amino acids: PriVaTe TIM HALL |
|
which 2 AA are required during periods of growth
|
Arg
His |
|
what are the acidic amino acids
|
Asp, Glu
mneu: Asp=aspartic ACID, Glu=glutamic ACID |
|
At body pH (7.4) acidic amino acids (Asp, Glu)are _____ charged
|
negatively
|
|
what are the basic amino acids
|
arg, lys, his
|
|
At body pH (7.4) basic amino acids (Arg, lys)are _____ charged, but _____ has no net charge
|
positively
his |
|
arg and lys have an extra _____ group
|
NH3
|
|
the MOST basic amino acid
|
arginine
|
|
thise 2 AA are found in high amounds in histones, which bind to negatively charged DNA
|
arg, lys
|
|
image p 94. Transport of ammonium by alanine and glutamine
|
--
|
|
this cycle degrades amino acids into amino groups. It accounts for 90% of the nitrogen in the urine.
|
urea cycle
|
|
urea cycle occurs in this organ
|
liver
|
|
in what part of the cell does the urea cycle occur
|
carbamoyl phosphate incorporation occurs in the mitochondria; the remaining steps occur in the cytosol
|
|
urea cycle image p. 94
|
ornithine, Carbamoyl phosphate, Citrulline, Aspartate, Argininosuccinate, Fumarate, Arginine, urea
mneu: Ordinarily, Careless Crappers Are Also Frivolous About Urination |
|
give the amino acid derivative of epinephrin
|
phenylalanine
|
|
give the amino acid derivative of thyroxine
|
phenylalanine
|
|
give the amino acid derivitive of NAD+/NADP+
|
tryptophan
|
|
give the amino acid derivative of melanin
|
phenylalanine
|
|
give the amino acid derivative of serotonin
|
tryptophan
|
|
give the amino acid derivative of melatonin
|
tryptophan
|
|
give the amino acid derivative of histamine
|
histadine
|
|
give the amino acid derivative of heme
|
Glycine
|
|
give the amino acid derivative of creatine
|
arginine
|
|
give the amino acid derivative of urea
|
arginine
|
|
give the amino acid derivative of nitric oxide
|
arginine
|
|
give the amino acid derivative of GABA
|
glutamate
|
|
give the amino acid derivative of dopamine
|
phenylalanine
|
|
give the amino acid derivative of norepinephnine
|
phenylalanine
|
|
In normal metabolism phenylalanine is converted into _____
|
tyrosine
|
|
in PKU there is decreased ________ or decreased tetrahydrobiopterin cofactor
|
phenylalanine hydroxylase
|
|
findings of phenylketonuria
|
mental retardation, growth retardation, fair skin, eczema, musty body odor.
mneu: d/o of AROMATIC amino acid metabolism -> musty body ODOR |
|
tx of PKU
|
no phenylalanine in diet (e.g., aspartame, nutrasweet) and increase in tyrosine
|
|
when should you screen for PKU
|
at birth
|
|
name the 3 phenylketones
|
phenylacetate
phenyllactate phenylpyruvate |
|
what is the inheratiance of PKU & incidence
|
autosomal-recessive dz
1:10,000 |
|
this is a congenital deficiency of homogentisic acid oxidase in the degradative pathway of tyrosine.
|
alkaptonuria
|
|
in alkaptonuria, these cause the urine to turn black on standing
|
alkapton bodies
|
|
in alkaptonuria, in addition to dark urine this is also dark
|
connective tissue
|
|
pts w/ alkaptonuria may have debilitating
|
arthralgias
|
|
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 |
albinism
|
|
lack of melanine results in an increase risk of this CA
|
skin CA
|
|
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
|
homocystinuria
|
|
there are three forms of homocystinuria. Name the enzyme deficiency and give the dietary txs if there is one
|
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 |
|
image. Homocystinuria. p.96
|
--
|
|
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
|
Cystinuria
mneu: COLA in the urine |
|
this is a congenital deficiency of homogentisic acid oxidase in the degradative pathway of tyrosine.
|
alkaptonuria
|
|
in alkaptonuria, these cause the urine to turn black on standing
|
alkapton bodies
|
|
in alkaptonuria, in addition to dark urine this is also dark
|
connective tissue
|
|
pts w/ alkaptonuria may have debilitating
|
arthralgias
|
|
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 |
albinism
|
|
tx for Cystinuria
|
acetazolamide to alkalinize the urine
|
|
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.
|
maple syrup urine dz
mneu: urine smells like maple syrup. I Love Vermont maple syrup |
|
tx for Cystinuria
|
acetazolamide to alkalinize the urine
|
|
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.
|
maple syrup urine dz
mneu: urine smells like maple syrup. I Love Vermont maple syrup |
|
purine salvage deficiencies p. 97
|
--
|
|
what does SCID stand for?
What is the enzyme deficiency?What immune cells are involved? Who does it effect |
Severe combined (T and B) immuodeficiency dz.
Adenosine deaminase (ADA)deficiency happens to kids mneu: bubble boy |
|
pathophysiology of SCID
|
excess ATP and dATP imbalances nucleotide pool via feedback inhibition of ribonucleotide reductase. This prevents DNA synthesis and thus decreases lymphocyte count.
|
|
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)
|
Lesch-Nyyhan syndrome
mneu: LNS- Lacks Nucleotide Salvage (purine) |
|
inheratance of Lesch Nyhan syndrome
|
X-linked recessive.
|
|
LNS results in excess of this acid
|
uric acid
|
|
patient manifestation of Lesch-Nyhan syndrome
|
retardation, self-mutilation, aggression, hyperuricemia, gout, choreoathetosis
|
|
image fed state v. fasting state p. 97
|
--
|
|
is the fasting state phosphorylated or non-phosphorylated
|
phosphorylated
mneu: in the fasting state phosphorylate |
|
this hormone is required for adipose and skeletal mm uptake of glucose
|
insulin
mneu: INsulin moves glucose INto cells |
|
where is insulin made (cells/organ)
|
Beta cells of pancreas
|
|
what receptors are found in the beta cells
|
GLUT 2
|
|
what receptors are found in mm and fat
|
GLUT 4
|
|
insulin inhibits the release of this hormone by alpha cells of pancreas
|
glucagon
|
|
is serum C-peptide present w/ exogenous insulin intake
|
no
|
|
what are the anabolic effects of insulin
|
1) glucose transport
2) glycogen synthesis and storage 3) triglyceride synthesis and storage 4)Na+ retention (kidneys) 5) protein sytnesis (mm |
|
Name the tissues that don't need insulin for glucose uptake
|
Brain
RBCs Intestine Cornea Kidney Liver mneu: BRICK L |
|
Glucagon ______ (phosphorylates/Dephosphorylates), turns glycogen sytnase _____ and phosphorylase ____
|
phosphorylates
OFF ON |
|
Insulin______ (phosphorylates/Dephosphorylates), turns glycogen sytnase _____ and phosphorylase ____
|
dephosphorylates
ON OFF |
|
there are 12 types of these diseases all resulting in abnormal glycogen metabolism and accumulation of glycogen within cells
|
glycogen storage diseases
|
|
In this glycogen storage disease, there is a glucose 6-phosphatase deficiency
|
Von Gierke's dz (GSD type I)
|
|
Give some clinical findings of Von Gierke's dz (GSD type I)
|
severe fasting hypoglycemia, increased glycogen in the liver, hepatomegly, increased blood lactate
hint: the liver becomes a mm |
|
In this glycogen storage disease, there is a lysosomal alpha 1,4-glucosidase deficiency
|
Pompe's dz (type II)
|
|
Give some findings of Pompe's dz
|
cardiomegly and systemic findings, leading to early death
mneu: Pompe's trashes the Pump (heart, liver mm) |
|
In this glycogen storage disease, there is a deficiency of debranching enzyme alpha 1,6 glucosidase
|
Cori's dz (type III)
|
|
give some clinical findings of Cori's dz
|
milder form of type I w/ normal blood lactate levels
|
|
In this glycogen storage disease, there is a deficiency of skeletal mm glycogen phosphorylase deficiency
|
McArdle's dz (type V)
mneu: McArdle's: Muscle |
|
Give some findings of McArdle's dz
|
increased glycogen in mm but cannot greak it down, leading to painful cramps, myoglobinuria w/ strenuous exercise
|
|
this classification of dz is caused by a deficiency in one of the many lysosomal enzymes
|
lysosomal storage diseases
|
|
clinical findings are peripheral neuropahty of hands/feet, antiokeratomas, CV/renal dz. What is the dz? deficient lysosomal enzyme? Accumulated substrate? Inheritance?
|
Fabry's dz
alpha-galactosidase A Ceramide trihexoside XR |
|
clinical findings are hepatosplenomegly, aseptic necrosis of femur, bone crises. What is the dz? deficient lysosomal enzyme? Accumulated substrate? Inheritance?
|
Gaucher's dz
B-glucocerbrosidase Glucocerebroside AR |
|
clinical findings are progressive neurodegeneration, HSM, cherry red spot on macula What is the dz? deficient lysosomal enzyme? Accumulated substrate? Inheritance?
|
Niemann-Pick dz
Sphingomyelinase Sphingomyelin AR mneu:NO MAN PICS (NIEMANN-PICK) his nose w/ his SPHINGER(SPHINGomylenase |
|
clinical findings are progressive neurodegeneration, developmental delay, cherry-red spot, lysozymes w/ onion skin. What is the dz? deficient lysosomal enzyme? Accumulated substrate? Inheritance?
|
Tay-Sachs dz
Hexosaminidase A GM2 ganglioside AR mneu: Tay-SaX (Tay-Sachs) lacks heXosaminidase |
|
clinical findings are peripheral neuropathy, developmental delay, optic atrophy. What is the dz? deficient lysosomal enzyme? Accumulated substrate? Inheritance?
|
Krabbe's dz
B-galactosidase Galactocerebroside AR |
|
clinical findings are central and peripheral demyelination w/ ataxia, dementia. What is the dz? deficient lysosomal enzyme? Accumulated substrate? Inheritance?
|
Metachromatic leukodystophy
Arylsulfatase A Cerebroside sulfate AR |
|
clinical findings are developmental delay, gargoylism, airway obsxn, corneal clouding, HSM What is the dz? deficient lysosomal enzyme? Accumulated substrate? Inheritance?
|
Hurler's syndrome
alpha-L-iduronidase Heparan sulfate & dermatan sufate AR |
|
clinical findings are mild Hurler's w/ aggressive behavior, no corneal clouding. What is the dz? deficient lysosomal enzyme? Accumulated substrate? Inheritance?
|
Hunter's syndrome
Iduronate sulfatase heparan sulfate, dermatan sulfate XR mneu: HUNTERS aim for the X (X-linked recessive) |
|
fatty acid metabolism. image 100
|
--
|
|
Where does fatty acid degradation occur
|
mitochondria
(where its products will be consumed) |
|
in the liver, fatty acid and amino acids are broken down into ______ to be used by _____ & ______
|
ketone bodies (acetoacetate + hydroxybuterate
To be used in mm & brain). |
|
when are ketone bodies found
|
prolonged starvation and diabetic ketoacidosis
|
|
how are ketone bodies excreted
|
urine
|
|
what are ketone bodies made from
|
HMG CoA
|
|
Ketone bodies are metabolized by the brain to 2 molecules of _______
|
acetyl-CoA
|
|
how do ketone bodies smell on the breath
|
like acetone (fruity odor)
|
|
What is the rate-limiting step in cholesterol synthesis
|
HMG-CoA reductase, which converts HMG-CoA to mevalonate.
|
|
What cholesterol drug inhibits HMG CoA reductase
|
Lovastatin
|
|
2/3 of plasma cholesterol is esterified by this
|
lecithin-cholesterol acyltransferase (LCAT)
|
|
image lipoproteins p. 101
|
--
|
|
this lipase is responsible for degradation of dietary TG in the small intestine
|
pancreatic lipase
|
|
this lipase is responsible for degradation TG circulating in chylomicrons and VLDLs
|
lipoprotein lipase
|
|
this lipase is responsible for degradation TG remaining in IDL
|
Hepatic TG lipase
|
|
this lipase is responsible for degradation of TG stored in adipocytes
|
hormone sensitive lipase
|
|
this major apolipoprotein Activates LCAT
|
AI
|
|
this major apolipoprotein Binds to LDL receptor
|
B-100
|
|
this major apolipoprotein is a Cofactor for lipoprotein lipase
|
CII
|
|
this major apolipoprotein mediates Extra (remnant) uptake
|
E
|
|
the cells in this part of the body convert FFA back to TG and package it in chylomicrons
|
intestines
|
|
give the 5 lipoproteins
|
chylomicrons, VLDL, IDL, LDL, HDL
|
|
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
|
chylomicron
|
|
Apolipoprotein ____ mediates secetion of chylomicrons
|
B-48
|
|
Apolipoprotein ____ are used for formation of new HDL
|
A
|
|
Apolipoprotein ____ activates lipoprotein lipase
|
C-II
|
|
Apolipoprotein ____ mediates remnant uptake by liver
|
E
|
|
These lipoproteins deliver hepatic triglycerides to peripheral tissues.
|
VLDL
|
|
VLDL is secreted by this organ
|
liver
|
|
excess VLDL causes this dz
|
pancriatitis
|
|
this apolipoprotein mediates secretion of VLDL
|
B-100
|
|
this apolipoprotein mediates remnant uptake of VLDL by the liver
|
E
|
|
this lipoprotein is formed in the degradation of VLDL. It delivers triglycerides and cholesterol to the liver, where they are degraded to LDL
|
IDL
|
|
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
|
LDL
|
|
this LDL apolipoprotein mediates binding to cell surface receptor for endocytosis
|
B-100
|
|
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
|
HDL
|
|
this HDL apolipoprotein helps form HDL sx
|
A
|
|
this HDL apolipoprotein in particular activates LCAT (which catalyzes esterification of cholesterol)
|
A-I
|
|
this HDL apolipoprotein mediates transfer of cholesterol esters to other lipoprotein particles.
|
CETP
|
|
LDL & HDL carry most cholesterol. ___ transports cholesterol from liver to tissue; ____ transports it from periphery to liver
|
LDL
HDL |
|
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
|
type I - hyperchylomicronemia
|
|
This type of familial dyslipidemia results from a decrease in LDL receptors. It results in an increase of LDL which leads to elevated cholesterol.
|
type IIa hypercholesterolemia
|
|
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
|
type IIb-combined hyperlipidemia
|
|
This type of familial dyslipidemia results from altered apolipoprotein E leading to an increase in IDL & VLDL resulting in elevated TG & cholesterol
|
type III-dysbetalipoproteinemia
|
|
This type of familial dyslipidemia results from hepatic overproduction of VLDL resulting in increased VLDL levels leading to elevated TGs in the blood
|
type IV-hypertriglyceridemia
|
|
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
|
type V-mixed hypertriglyceridemia
|
|
underproduction of heme causes this type of anemia
|
microcytic hypochromic
|
|
accumulations of heme intermediates causes thius
|
porphyrias
|
|
image p103- heme synthesis
|
---
|
|
this type of porphyria inhibits ferrochelatase and ALA dehydrase. Cooproporphyrin and ALA accumulate in the urine
|
lead poisoning
|
|
this type of porphyria results from a deficiency in uroporphyrinogen I synthetase. Porphobilogen and delta-ALA accumulate in urine
|
Acute intermittent porphyria
|
|
this type of porphyria results from a deficiency in uropophyrinogen decarboxylase. Uroporphyrin accumulates in urine (tea-colored). results in photosensitivity
|
Porphyria cutanea tardia
|
|
symptoms of porphyrias (5 Ps)
|
Painful abdomen
Pink urine Polyneuropathy Psychological disturbances Precipitated by drugs |
|
heme is scavenged from RBCs and ____ is reused
|
Fe++
|
|
heme ->_____->bilirubin
|
biliverdin
|
|
bilirubin is toxic to this organ system
|
CNS
|
|
bili is transported by this protein
|
albumin
|
|
bili is removed from the blood by this organ
|
liver
|
|
bili is conjugated with this ____
|
glucuronate
|
|
bili is excreted in this supstance
|
bile
|
|
where in the body is bili processed into its excreted form
|
intestine
|
|
some ________, an intestinal intermediate, is reabsorbed into blood and excreted as urobilin into urin
|
urobilinogen
|
|
this poison has a 200x greater affinity than O2 for HGB
|
CO
|
|
hemoglobin is composed of 4 polypeptide subunits. describe them
|
2 alpha
2 beta |
|
HGB exists in 2 forms what are they
|
T (taut) low affinity for O2
R (relaxed) high affinity for O2 (300x) |
|
Hgb exibits _______ cooperativity and ________ allostery (accounts for the sigmoid-shaped O2 dissociation curve for hgb), unlike myoglobin
|
positive
negative |
|
name the things that favor the relaxed form of hgb (shifting dissociation curve to the right, leading to O2 unloading)
|
increased Cl-,H+,CO2,2,3BPG, hight temp.
mneu: when you're relaxed, you do your job better (carry O2) |
|
what are the fetal hgb subunits
|
2alpha
2gamma |
|
fetal hgb has a lower affinity for _____ than adult hgb and thus has a higher affinity for O2
|
2,3-BPG
|
|
Iron in hgb is in a _____ state (ferrous, Fe++)
|
reduced
|
|
this is an oxidized form of hgb (ferric, Fe++) that does not bind O2 as readily but has increased affinity for CN-.
|
methemoglobin
|
|
administer this in cyanide poisoning to oxidize hgb to methemoglobin form
|
nitrites
|
|
tx toxic levels of METHemoglobin with -----
|
METHylene blue
|
|
CO2 is transported in the blood by binding to
|
amino acids in the globin chain (at N terminus) but not to heme
|
|
CO2 binding favors this form of hgb (and thus promotes O2 unloading)
|
taut
|
|
CO2 must be transported from tissue to lungs, the reverse of O2, and this occurs primarily in what form
|
bicarbinate
|
|
this is a molecular biology laboratory procedure that is used to synthesize many copies of a desired fragment of DNA
|
polymerase chain reaction (PCR
|
|
steps of PCR
|
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 |
|
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.
|
southern blot
SNoW DRoP: Southern=DNA Northern=RNA Western=Protein |
|
this molecular biology technique, is a similar technique, except that it involves radioactive DNA probe binding to sample RNA
|
northern blot
SNoW DRoP: Southern=DNA Northern=RNA Western=Protein |
|
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
|
Western drop
SNoW DRoP: Southern=DNA Northern=RNA Western=Protein |
|
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. |
Enzyme-linked immunosorbent assay (ELISA)
|
|
image ELISA p. 105
|
--
|
|
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
|
Antibody
|
|
define the genetic term VARIABLE EXPRESSION
|
nature and severity of the phenotype varies from 1 individual to another
|
|
define the genetic term INCOMPLETE PENETRANCE
|
Not all individuals with a mutant genotype show the mutant phenotype
|
|
define the genetic term PLEIOTROPY
|
1 gene has >1 effect on an individual's phenotype
|
|
define the genetic term IMPRINTING
|
differences in phenotype depend on whether the mutationis of maternal or paternal origin (e.g., AngelMan's syndrome [Maternal], Prader-Willi syndrome [Paternal]
|
|
define the genetic term ANTICIPATION
|
Severity of dz worsens or age onset of dz is earlier in succeeding generations (e.g., Huntington's dz)
|
|
define the genetic term LOSS OF HETEROZYGOSITY
|
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
|
|
define the genetic term DOMINANT NEGATIVE MUTATION
|
exerts a DOMINANT EFFECT. A heterozygote produces a nonfxnl altered protein that also prevents the normal gene product from funcioning
|
|
define the genetic term LINKAGE DISEQUILIBRIUM
|
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
|
|
define the genetic term MOSAICISM
|
occurs when cells in the body have different genetic makeup (e.g. lyonization--random X inactivation in females)
|
|
define the genetic term LOCUS HETEROGEITY
|
Mutations at different loci can produce the same phenotype (e.g., albinism
|
|
Hardy-Weinberg law assumes (4)
|
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 |
|
If a population is in Hardy-Weinberg equilibrium. p and q are separate allele. 2pq=heterozygote prevalence.
allele prevalence is? disease prevalence is? |
p+q=1
p2 + 2pq +q2 =1 |
|
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 |
Autosomal dominant
|
|
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. |
autosomal recessive
|
|
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. |
X linked recessive
|
|
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. |
X linked dominant
|
|
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. |
mitochondrial inheritance
|
|
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
|
Adult Polycystic Kidney Dz
|
|
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.
|
Familial hypercholesterolemia (hyperlipidemia type IIA)
|
|
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 |
Marfan's syndrome
|
|
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
|
Neurofibromatosis type 1 (von Recklinghausen's dz)
mneu: chrom 17-17 letters in von Recklinghausen |
|
This autosomal dominant dz, is characterized by bilateral acoustic neuroma, optic pathway gliomas, juvenile cataracts.
|
Neurofibromatosis type 2
|
|
Neurofibromatosis type 2 is on this gene on this chromosome
|
NF2 gene on chrom 22
|
|
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.
|
Tuberous sclerosis
|
|
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.
|
Von Hippel-Lindau dz
|
|
Von Hippel-Lindau dz is associated with deletion of this gene on this chromosome
|
VHL gene (tumor suppressor) on chromosome 3 (3p)
mneu: VHL=3 words=chrom 3 |
|
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.
|
Huntington's dz
|
|
Huntington's dz gene is located on this chromosome. It is a _____ repeat d/o
|
chrom 4
triplet repeat mneu: "Hunting 4 food" |
|
This autosomal dominant dz, is characterized by the colon becoming covered with adenomatous polyps after puberty. Progresses to cancer unless resected.
|
familial adenomatous polyposis
|
|
familial adenomatous polyposis is a deletion of this chromosome
|
5
mneu: 5 letters in "polyp" |
|
This autosomal dominant dz, is characterized by spheroid erythrocytes; hemolytic anemia; increased MCHC. Splenectomy is curative
|
hereditary spherocytosis
|
|
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
|
achondroplasia
|
|
name 5 autosomal-recessive dzs
|
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
|
|
CF has this inheratance
|
autosomal recessive
|
|
what is the gene and chromosome of CF
|
CFTR on chromosome 7
|
|
what is the defective channel in CF that results in secretion of abnormally thick mucus that plugs lungs, pancreas, and liver.
|
Cl-
|
|
the recurrent pulmonary infections in CF are often due to these 2 bugs
|
pseudomonas and S. aureus.
|
|
this CF complication results in malabsorption and steatorrhea
|
pancreatic insufficiency
|
|
CF can cause this in this in newborns
|
meconium ileus
|
|
how do you dx CF
|
incresed concentration of Cl-ions in a sweat test.
|
|
CF can cause this in males due to absent vas deference
|
infertility
|
|
these vitamen deficiencies can be present in CF. It may present as failure to thrive in infancy
|
ADEk
|
|
CF is the most common lethal genetic dz in this racial group
|
caucasians
|
|
in CF this tx will loosen mucous plugs
|
N-acetylcystein
|
|
Give 5 X-linked recessive disorders
|
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
|
|
T or F. Female carriers of X-linked recessive d/o are rarely affected because of random inactivation of X chromosomes in each cell
|
T
|
|
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)
|
Duchenne's muscular deficiency
|
|
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.
|
dystrophin gene
mneu: Duchenne's = Deleted Dystrophin |
|
In this d/o the mutation of the dystrophin gene is less sever than Duchenne's
|
Becker's
|
|
fragile x syndrome is an x-linked defect affecting the methylation and expression of the ____ gene
|
FMR1
|
|
how common is fragile X
|
commmon
2nd most common cause of mental retardation most common cause is down sydnrome |
|
give some PE findings of fragile X
|
macro-orchidism (enlarged testes), long face w/ large jaw, large everted ears, and autism
mneu: Fragile X=eXtra-large testes, jaw, ears |
|
fragile X syndrome is a ______ repeat d/o (CGC)n that may show genetic anticipation (germlike expansion in females).
|
triplet
|
|
Give 3 trinucleotide repeat expansion dz
|
HUNTINGton's dz, MYotonic dystrophy, FRIEDreich's ataxia, frafile X syndrome.
mneu: TRY (trinucleotide) HUNTING for MY FRIED eggs (X) |
|
trinucleotide repeat expansion dz may show this which refers to increased disease severity and age of severity in successive generations
|
anticipation
|
|
Give 5 common congenital malformations
|
1) heart defects
2) hypospadias 3) cleft lip 4) congenital hip dislocation 5) spina bifida 6) Anencephaly 7) Pyloric stenosis |
|
this common congenital malformation is associated with projectile vomiting
|
pyloric stenosis
|
|
give 3 autosomal trisomies
|
down syndrome
edwards' syndrome patau's syndrome |
|
give the genetics of Down syndrome
|
trisomy 21
|
|
how common is down syndrome
|
most common chromosomal d/o and cause of congenital mental retardation
|
|
give some physical exam findings of down syndrome
|
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).
|
|
what dzs are people w/ down syndrome at risk for as they get older
|
alzheimer's dz (>35 y/o)
increase risk of ALL |
|
give tips off in utero that a baby may be trisomy 21
|
decreased levels of alpha fetoprotein, inceased levels of beta hCG, increased nuchal translucency
|
|
95% of cases of trisomy 21 are due to this type of nondisjxn of homologous chromosomes
|
meiotic
4% of cases due to robertsonian translocation 1% due to Down mosaicism (no maternal association) |
|
What is the risk of down syndrome in women < 20 y/o?
>45 y/o |
1:1500
1:25 |
|
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
|
Edwards' syndrome
(trisomy 18) 1:8000 mneu: Election age (18) |
|
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
|
Patau's syndrome
(trisomy 13) 1:6000 mneu: Pubety (13) |
|
image p. 110 nondisjxn
|
--
|
|
findings of this d/o include microcephaly, severe mental retardation, high ptiched crying/mewing, epicanthal folds, cardiac abnormalities
what is the congenital deletion |
short arm of chromosome 5
(46,XX or XY, 5p) Cri-du-chat syndorme |
|
Cleft palate, Abnormal facies, Thymic aplasia (T-cel deficiency), Cardiac defects, Hypocalcemia (secondary to parathyroid aplaisia)
|
22q11
CATCH-22 |
|
22q11 has variable presentation as these 2 syndromes
|
DiGeorge Sydnrome (thymic, parathyroid, and cardiac defects) or velocardiofacial syndrome (palate, facial, and cardiac defects)
|
|
what are the fat soluble vitamens
|
ADEK
|
|
this fat soluble vitamen is key in vision
|
A
|
|
this fat soluble vitamen is key for bone calcification and Ca+ homeostasis
|
D
|
|
this fat soluble vitamen is key in clotting
|
K
|
|
this fat soluble vitamen is a key antioxident
|
E
|
|
thiamine
|
B1
|
|
riboflavin
|
B2
|
|
niacin
|
B3
|
|
this water soluble viatamen is key for blood and neural development
|
folate
|
|
this fat soluble vitamen is key for the CNS and blood
|
B12 (cobalamin)
|
|
pyridoxine/Pyridoxal/Pyridoxamine
|
B6
|
|
the absorption of fat soluble vitamens is dependent on these 2 organs
|
gut(ilium) and pancreas
|
|
is toxicity more common in water soluble or fat soluble vitamens
|
fat
|
|
malabsorption syndromes (steatorrhea), such as cystic fibrosis and sprue, or mineral oil intake can cause these vitamin deficiencies
|
fat
|
|
Water soluble vitamens all wash out easily from the body except this vitamen that is stored in the liver
|
B12
|
|
B1
|
thiamine: TTP
|
|
B2
|
riboflavin: FAD, FMN
|
|
B3
|
niacin: NAD+
|
|
B5
|
Pantothenate: CoA
|
|
B12
|
cobalamin
|
|
C
|
ascorbic acid
|
|
pt presents with dermatitis, glossitis, and diarrhea. What vit deficiencies
|
B complex
|
|
this vitamen is a constituent of visual pigments (retinal)
|
A
mneu: RETINOL is vitamen A, so think RETIN-A (used topically for wrinkles and acne) |
|
give 3 symptoms of vit A deficiency
|
night blindness, dry skin, impared immune response
|
|
give 3 symptoms of vit A excess
|
arthralgias, fatigue, headaches, skin changes, sore throat, alopecia
|
|
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
|
vitamen B1 (thiamine)
|
|
give 2 conditions that can result from vit B1 (thiamine) deficiency
|
Beriberi and Wernicke-Korsakoff syndrome
mneu: Ber1Ber1 |
|
this type of beriberi is characterized by polyneuritis and mm wasting
|
dry
|
|
this type of beriberi is characterized by high-output cardiac failure (dilated cardiomyopathy, edema
|
Wet
|
|
this vitamen is a cofactor in oxidation and reduction (e.g., FADH2)
|
vitamen B2 (riboflavin)
|
|
give a few signs of vit B2 (riboflavin) deficiency
|
angular stomatitis, cheilosis, corneal vasculation
mneu: the 2 C's |
|
FAD & FMN are derived from this vitamen
|
riboFlavin
|
|
B2=___ATP
|
2
|
|
this vitamen is a constituent of NAD+, NADP+ (used in redox reactions). Derived from tryptophan using vit B6
|
vitamen B3 (niacin)
|
|
give the 3 Ds of Pellagra
|
diarrhea, dermatitis, dementia (also beefy glossitis)
|
|
deficiency of vit B3 (niacin can be caused by hartnup dz. Why?
|
decreased tryptophan absorption
|
|
deficiency of vit B3 (niacin can be caused by malignant carcinoid syndrome. Why?
|
increased tryptophan metabolism
|
|
deficiency of vit B3 (niacin can be caused by INH. Why
|
decrease vit B6
|
|
NAD is derived from _______
|
Niacin
|
|
B3=__ATP
|
3
|
|
this vitamne fxs as a constituent of CoaA (a cofactor for acyl transfors) and component of fatty acid synthase.
|
vitamen B5 (pantothenate)
mneu: Pantothen-A is in CoA |
|
give some signs of vit B5 deficiencies
|
dermatitis, enteritis, alopecia, adrenal insufficiency
|
|
this vitamen fxs converted to pyridoxal pyridoxal phosphate, a cofactor used in transamination (e.g., ALT & AST), decarboxylation, and heme synthesis
|
vitamen B6 (pyridoxine)
|
|
give signs of vit B6 (pyridoxine)
|
convulsions, hyperirritability (deficiency inducible by INH and oral contraceptives), peripheral neuropathy.
|
|
this vitamen is a cofactor for homocysteine methylation (transfers CH3 groups as methylcobalamin) and methylmalonyl-CoA handling.
|
vitamin B12 (cobalamin)
|
|
vitamen B12 is stored primarily in this organ
|
liver
|
|
vitamme B12 is synthesized only by microorganisms and is found only in this type of food
|
animal products.
|
|
vitamen B12 is usually caused by malabsorption-- give a few examples
|
sprue, enteritis, Diphyllobothrium latum
|
|
vitamen B12 can be caused by pernicious anemia which is caused by a lack of this
|
intrinsic factor
|
|
vit B12 can be caused by absense of terminal ileum for example in this GI dz
|
chron's dz
|
|
this test is used to detect vit B12
|
schillng test
|
|
abnormal myelin is seen in B12 deficiency, possibly due to decreased_______ or increased ________ (from metabolism of accumulated methylmalonyl-CoA)
|
methionine
methylmalonic acid |
|
this is the most common vitamen deficiency in the US
|
folic acid
|
|
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
|
folic acid
|
|
give some signs and symptoms of folic acid deficiencies
|
macrocytic, megaloblastic anemia (often no neuro symptoms, as opposed to vitB12
|
|
what kind of foods are high in folate
|
green leafy veggies
mneu: FOLate from FOLiage |
|
supliment folic acid when
|
early pregnancy-reduces neural tube defects
|
|
PABA is the folic acid precursor in bacteria. these antimicrobials work because they are PABA analogs
|
sulfa drugs and dapsone
|
|
this vitamen is a cofactor for carboxylations:
1) Pyruvate ->oxaloacetate 2) Acetyl-CoA ->malonyl-CoA 3) Proprionyl-CoA ->methhylmalonyl CoA |
biotin
|
|
biotin deficiency can be caused by using these drugs or eating these
|
antibiotics
raw eggs mneu: AVIDin in egg whites AVIDly binds biotin |
|
give some symptoms of biotin deficiency
|
dermatitis, enteritis
|
|
give some signs of vit C deficiency
|
scurvy--swollen gumbs, bruising, anemia, poor wound healing
|
|
vit C is necessary for hydroxylation of _____ and _____ in collagen synthesis
|
proline
lysine mneu: vit C Cross-links collagen. British sailors carried limes to prevent scury (origin of word "limey" |
|
vit C facilitates absorption of this nutrient
|
Fe++
(keeps it in a reduced state-more absorpable) |
|
vit C is necassary as a cofactor for dopimine in conversion to this neurotransmitter
|
NE
|
|
this is the form of vit D found in milk
|
D2 (ergocalciferol)
|
|
this is the form of vit D formed in sun-exposed skin
|
D3 (cholecalciferol)
|
|
this is the storage form of vit D
|
25-OHD3
|
|
this is the active form of vit D
|
25-(OH)2D3
|
|
give some signs of vit D deficiency
|
rickets in children (bending bones), osteomalacia in adults (soft bones) and hypocalcemic tetany
|
|
what is the fx of vit D
|
increase intestinal absorption of Ca++ & phosphate
|
|
what are some signs of vit D excess
|
hypercalcemia, loss of appetite, stupor.
|
|
what dz might you see excess vit D in
|
sarcoidosis
(dz where epitheliod macrophages convert vitD into its active form |
|
vit E deficincy results in a fragility of these blood cells
|
erythrocytes
mneu: vit E is for Erythrocytes |
|
what is the fx of vit E
|
it is an antioxidant that protects erythrocytes from hemolysis
|
|
this vitamen funcitons to catalyze gamma-carboxylation of glutamic acid residues on various proteins concerned with blood clotting.
|
vit K
mneu: K is for Koagulation |
|
How is vit K synthesized. What drugs can cause vitK deficiency
|
intestinal flora
prolonged use of broad spectrum antibiotics |
|
vit K deficiency can result in this problem in neonates (what would PT, PTT, & bleeding time be)
|
neonatal hemorrhage w/ increased PT and increased aPTT but normal bleeding time
|
|
what are the vit K dependent clotting factors
|
II,VII,IX,X and protein C & S
|
|
this drug is a vitK antagonist
|
Warfarin
|
|
give a few signs of zinc deficiency
|
delayed wound healing, hypogonadism, decreased axillary, facial, and pubic hair. It may predispose to alcoholic cirrhosis.
|
|
etoh metabolism [p.115]
|
--
|
|
this enzyme catalyzes EtOh to acetaldehyde and reduces NAD+ to NADH
|
alcohol dehydrogenase
|
|
this enzyme catalyzes acetaldehyde to Acetate and reduces NAD+ to NADH
|
acetaldehyde dehydrogenase
|
|
what is the limiting reagent in etoh metabolism
|
NAD+
|
|
what is the kinetics of alcohol dehydrogenase
|
zero order
|
|
how does disulfram (antabuse)work.
|
inhibits acetaldehyde dehydrogenase--acetaldehyde accumulates contributing to hangover symptoms
|
|
describe ethanol hypoglycemia
|
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.
|
|
altered NADH/NAD+ ratio in the liver is responsible for this change seen in chronic alchololics
|
hepatic fatty change (hepatocellular steatosis)-shunting away from glycolysis and toward fatty acid synthesis
|
|
image. p. 115 etoh hypoglycemia
|
--
|
|
this is protein malnutrition resulting in skin lesions, edema, liver malfxn (fatty change). Clinical picture is a small child w/ a swollen belly
|
kwashiorkor
mneu: resutls from a protein deficient MEAL Malabsorption Edema Anemia Liver (fatty |
|
this results from protein-calorie malnutrition resulting in tissue wasting
|
marasmus
|