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235 Cards in this Set
- Front
- Back
physical findings in hyperlipidemia?
|
plaques in blood vessel walls, nodules in skin (xanthomas), deposits in tendon (especially achilles), corneal arcus
|
|
Monckeberg arteriosclerosis?
|
calcification in media of arterias, usually benign; does not obstruct blood flow or involve intima
|
|
progression of atherosclerosis?
|
endothelial cell dysfunction -> macrophage and LDL accumulation -> foam cell formation -> fatty streaks -> smooth muscle cell migration (involves PDGF and TGF-beta) -> fibrous plaque -> complex atheromas
|
|
most common locations of atherosclerosis?
|
abdominal aorta > coronary arter > popliteal artery > carotid artery
|
|
mechanism of statins?
|
HMG-coA reductase inhibitors;
inhibit production of cholesterol precursor (mevalonate) |
|
mechanism of niacin?
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inhibits lipolysis in adipose tissue; reduces hepatic VLDL secretion into circulation
|
|
mechanism of bile acid resins
|
prevent intestinal reabsorption of bile acids causing liver to use cholesterol to make more
|
|
mechanism of cholesteral absorption blockers?
|
(ezetimibe)
prevents cholesterol reabsorption at small intestine brush border |
|
mechanism of fibrates?
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upregulates LPL leading to increased TG clearance
|
|
signaling pathway for production of insulin?
|
glucose in pancreatic beta cells causes production of ATP which signals the closing of potassium channels causing depolarizing of cells
|
|
what cells don't need insulin for glucose uptake?
|
Brain
RBCs Intestine Cornea Kidney Liver |
|
where is GLUT-1 found?
|
RBCs, brain
|
|
where is GLUT-2 found?
|
(bidirectional, facilitated diffusion)
beta islet cells, liver, kidney, small intestine |
|
where is GLUT-4 found?
|
(insulin responsive)
adipose tissue, skeletal muscle |
|
17alpha-hydroxylase deficiency?
|
decreased levels of all sex hormones and cortisol, increased levels of aldosterone; leads to hypertension and hypokalemia, external female genitalia
|
|
21 hydroxylase deficiency?
|
decreased cortisol and mineralocorticoids with increased sex hormones; leads to masculinization/female pseudohermaphroditism with hypotension, hyperkalemia; newborn salt wasting
|
|
which endocrine hormones use cAMP signaling pathway?
|
FSH, LH, ACTH, TSH
CRH, hCG, ADH, MSH, PTH calcitonin, GHRH, glucagon |
|
which endocrine hormones use cGMP signaling pathway?
|
ANP, NO
|
|
which endocrine hormones use IP3 signaling pathway?
|
GnRH
Oxytocin ADH TRH |
|
which endocrine hormones use cytosolic steroid receptors?
|
Vitamin D, Estrogen, Testosterone, Cortisol, Aldosterone, Progesterone
|
|
which endocrine hormones use nuclear steroid receptors?
|
T3/T4
|
|
which endocrine hormones use intrinsic tyrosine kinase signaling pathway?
|
insulin, IGF-1, FGF, PDGF
|
|
which endocrine hormones use receptor-associated tyrosine kinase (JAK/STAT)?
|
GH, prolactin
|
|
pathophys of alpha-1 antitrypsin deficiency?
|
misfolded gene product protein accumulates in hepatocellular ER. Absence in lungs leads to overactivity of elastase -> panacinar emphysema
|
|
pathophys of physiologic neonatal jaundice?
|
immature UDP-glucuronyl transferase leads to unconjugated hyperbilirubinemia
|
|
levels of urine bilirubin in hemolytic jaundice?
|
none -- unconjugated hyperbilirubinemia is not water soluble
|
|
Gilbert's syndrome
|
elevated unconjugated bilirubin. Mild disease. Due to decreased UDP-glucuronyl transferase or decreased bilirubin uptake
|
|
Crigler-Najjar syndrome, type 1 and type 2
|
Missing UDP-glucuronyl transferase; increased unconjugated bilirubin causing jaundice and kernicterus; patients die young;
type 2: less severe, responds to phenobarbital |
|
Dubin-Johnson syndrome
|
conjugated hyperbilirubinemia and grossly black liver due to defective liver excretion of bilirubin. Benign.
|
|
Wilson's disease
|
inadequate hepatic copper excretion causing copper accumulation in liver, brain, cornea, kidneys, joints. Treat with penicillamine
|
|
Hemophilia A
|
deficiency of factor VIII
|
|
Hemophilia B
|
deficiency of factor IX
|
|
what coagulation proteins does vitamin K affect?
|
factors II, VII, IX, X, protein C, protein S
|
|
what does antithrombin inhibit?
|
thrombin, factors IXa, Xa, XIa, XIIa
|
|
causes of microcytic anemia
|
iron deficiency, alpha/beta thalassemia, lead poisoning, sideroblastic anemia
|
|
causes of macrocytic anemia
|
megaloblastic anemia caused by folate deficiency or B12 deficiency
non-megaloblastic anemia caused by: liver disease, alcoholism, reticulocytosis, metabolic disorders, drugs |
|
missing enzyme and accumulated substrate in acute intermittent porphyria
|
missing porphobilinogen deaminase, leading to accumulation of porphobilinogen, delta-ALA, uroporphyrin
|
|
missing enzyme and accumulated substrate in porphyria cutanea tarda
|
missing uroporphyrinogen decarboxylase leading to accumulation of uroporphyrin
|
|
products of arachidonic acid?
|
lipoxygenase -> leukotrienes
COX-1, COX-2 -> prostacyclin, prostaglandins, thromboxane |
|
trinucleotide repeat associated with Huntington's?
|
CAG
|
|
most common form of male pseudo-hermaphrodism?
|
androgen insensitivity syndrome
|
|
sex hormone levels in androgen insensitivity syndrome?
|
increased testosterone, estrogen, LH
|
|
presentation of 5alpha-reductase deficiency?
|
"penis at 12"
ambiguous genitalia until puberty when increased testosterone causes masculinization of external genitalia; normal testosterone/estrogen levels |
|
Where are fat soluble vitamins absorbed?
|
ileum; dependent on pancreatic enzymes
|
|
thiamine
|
B1
|
|
riboflavin
|
B2
|
|
Niacin
|
B3
|
|
Pantothenic Acid
|
B5
|
|
Pyridoxine
|
B6
|
|
Cobalamin
|
B12
|
|
Ascorbic Acid
|
Vit C
|
|
Fxn of thiamine?
|
Vit B1; as thiamine pyrophosphate (TPP) necessary as cofactor for:
1. Pyruvate dehydrogenase (glycolysis) 2. alpha-ketoglutarate dehydrogenase (TCA cycle) 3. Transketolase (HMP shunt) 4. Branched-chain AA dehydrogenase |
|
thiamine deficiency?
|
Wernicke-Korsakoff syndrome and beriberi; damage to medial dorsal nucleus of thalamus, mamillary bodies
|
|
function of riboflavin?
|
Vit B2; cofactor in oxidation/reduction (FADH2)
|
|
symptoms of riboflavin deficiency?
|
Vit B2; cheilosis (inflammation of lips, scaling and fissures at corners of mouth), corneal vascularization
|
|
Function of niacin?
|
Vit B3; used in NAD+/NADP+
|
|
Symptoms of niacin deficiency?
|
Vit B3; severe deficiency leads to pellagra (diarrhea, dermatitis, dementia)
|
|
Function of pantothenate?
|
Vit B5; essential component of CoA and fatty acid synthase
|
|
Synthesis of Niacin?
|
Vit B3; derived from tryptophan; synthesis requires vitamin B6
|
|
Function of cobalamin?
|
Vit B12; cofactor for homocysteine methyltransferase
|
|
Cobalamin deficiency?
|
Vit B12; causes macrocytic, megaloblastic anemia with hypersegmented PMNs and neurologic symptoms
Usually caused by malabsorption, lack of intrinsic factor, or absence of terminal ileum |
|
Function of folate?
|
Converted to tetrahydrofolate (THR), coenzyme for 1-carbon transfer/methylation reactions; important for synthesis of nitrogenous bases in DNA/RNA
|
|
Folic acid deficiency symptoms?
|
Macrocytic, megaloblastic anemia without neurologic symptoms; seen in alcoholism and pregnancy
|
|
S-adenosyl-methionine
|
used in transfering of methyl units (produced by ATP + methionine, requires Vit B12 and folate); used in conversion of NE to epinephrine
|
|
Function of biotin?
|
(B7) cofactor for carboxylation enzymes (add 1-carbon group): pyruvate carboxylase, acetyl-CoA carboxylase, propionyl-CoA carboxylase
|
|
Three functions of vitamin C (besides antioxidant properties)?
|
1. facilitates iron absorption by keeping iron in Fe2+ state
2. necessary for hydroxylation of proline and lysine in collagen synthesis 3. necessary for dopamine beta-hydroxylase (conversion of dopamine to NE) |
|
Four forms of Vitamin D?
|
D2 = ergocalciferol (ingested from plants)
D3 = cholecalciferol (consumed in milk, formed in sun-exposed skin) 25-OH D3 (storage form) 1,25-(OH)2 D3 = calcitriol (active form) |
|
Actions of vitamin D?
|
causes increased intestinal absorption of calcium and phosphate, increased bone resorption
|
|
Symptoms of vitamin E deficiency?
|
increased fragility of erythrocytes (hemolytic anemia), muscle weakness, posterior column and spinocerebellar tract demyelination
|
|
MOA of vitamin K?
|
catalyzes gamma-carboxylation of glutamic acid residues on clotting factors/proteins
|
|
Anosmia, delayed wound healing, decreased adult hair?
|
Zinc deficiency
|
|
macrocytic, megaloblastic anemia with hypersegmented PMNs and neurologic symptoms?
|
Vitamin B12 deficiency
|
|
vitamin deficiency caused by phenytoin, sulfonamides, methotrexate?
|
folate
|
|
vitamin deficiency caused by excessive ingestion of raw eggs?
|
biotin
|
|
swollen gums, bruising, anemia, poor wound healing
|
scurvy! Vitamin C deficiency
|
|
hypercalcemia, hypercalciuria, loss of appetite, stupor?
|
excess vitamin D
|
|
hemolytic anemia, muscle weakness, posterior column and spinocerebellar tract demyelination
|
vitamin E deficiency
|
|
dermatitis, glossitis, diarrhea?
|
B-complex deficiencies
|
|
night blindness, dry skin?
|
vitamin A deficiency
|
|
in utero exposure causing cleft palate, cardiac abnormalities?
|
vitamin A (retin-A cannot be used in pregnancy!)
|
|
arthralgias, fatigue, headaches, sore throat, alopecia
|
vitamin A excess
|
|
dry vs wet beriberi?
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dry = polyneuritis, symmetrical muscle wasting; wet adds high output cardiac failure (dilated cardiomyopathy) and edema
|
|
administration of what vitamin causes facial flushing?
|
Niacin (vitamin B3)
|
|
which nucleotides are purines?
|
adenine, guanine
|
|
which nucleotides are pyramidines?
|
cytosine, thymine, uracil
|
|
relationship of uracil to other nucleotides?
|
deamination of cytosine makes uracil; methylation of uracil makes thymine; takes place of thymine in RNA
|
|
GC vs AT bond?
|
GC has three H bonds; stronger than 2 bonds of AT\
|
|
Amino acids necessary for purine synthesis?
|
Glycine, Aspartate, Glutamine
|
|
precursor for all purines?
|
IMP
|
|
common precursor for pyrimadines?
|
orotate; PRPP added to generate UMP -> UTP
|
|
MOA of hydroxyurea?
|
inhibits ribonucleotide reductase; used in myeloproliferative diseases
|
|
MOA of 6-mercaptopurine?
|
blocks de novo purine synthesis
|
|
MOA of 5-fluorouracil?
|
inhibits thymidylate synthase
-antimetabolite, disrupts DNA replication by interrupting pyrimidine synthesis |
|
MOA of methotrexate?
|
inhibits dihydrofolate reductase
|
|
MOA of trimethoprim?
|
inhibits dihydrofolate reductase
|
|
lab test used to differentiate orotic aciduria from OTC deficiency?
|
in orotic aciduria, no hyperammonemia
|
|
major cause of SCID?
|
adenosine deaminase deficiency; leads to imbalances of nucleotide pool that prevents DNA synthesis and decreases lymphocyte count
|
|
enzyme deficiency in Lesch-Nyhan syndrome?
|
absent HGPRT leading to defective purine salvage and excess uric acid production
|
|
findings in Lesch-Nyhan syndrome?
|
excess uric acid production; retardation, self-mutilation, aggression, hyperuricemia, gout, choreoathetosis
|
|
Start codon?
|
AUG, codes for methionine in eukaryotes
|
|
exceptions for universality of genetic code?
|
mitochondria, archaebacteria, mycoplasma, some yeasts
|
|
enzyme responsible for unwinding DNA template at replication fork during DNA replication?
|
helicase
|
|
MOA of fluoroquinolones?
|
inhibit DNA gyrase (a prokaryotic specific topoisomerase)
|
|
enzyme responsible for degrading RNA primer during DNA replication in prokaryotes?
|
DNA polymerase I
|
|
genetic defect in xeroderma pigmentosum?
|
mutation leading to faulty nucleotide excision repair of thymidine dimers
|
|
genetic defect in hereditary nonpolyposis colorectal cancer?
|
faulty mismatch repair
|
|
mRNA stop codons
|
UGA, UAA, UAG
|
|
post-transcriptional modification of RNA in eukaryotes?
|
1. cap on 5' end (7-methylguanosine)
2. polyadenylation on 3' end 3. splicing out of introns |
|
MOA of tetracyclines?
|
bind to 30s subunit of ribosome, preventing attachment of tRNA
|
|
MOA of aminoglycosides?
|
inhibit protein synthesis by inhibiting formation of initiation complex and causing misreading of mRNA
|
|
MOA of chloramphenicol?
|
inhibitis ribosomal 50S peptidyltransferase
|
|
MOA of macrolides and clindamycin?
|
bind to 50s ribosomal subunit, blocking translocation
|
|
post-translational modification of proteins?
|
trimming, covalent alterations, proteasomal degradation of defective proteins
|
|
what types of cells are rich in RER?
|
secretory cells like mucus-secreting goblet cels of small intestine and antibody-secreting plasma cells
|
|
what types of cells are rich in SER?
|
sites of steroid synthesis and detoxification like liver hepatocytes and steroid hormone-producing cells of adrenal cortex
|
|
what is role of mannose-6-phosphate tag added by golgi aparatus?
|
targets protein to lysosome
|
|
role of COPI vs COPII in golgi trafficking?
|
COPI: retrograde (golgi -> ER)
COPII: anterograde (RER ->cis-Golgi) |
|
what is I-cell disease?
|
inherited lysosomal storage disorder involving failure of addition of mannose-6-phosphate to lysosomal proteins by golgi body; results in coarse facial features, clouded corneas, restricted joint movement, high plasma levels of lysosomal enzymes
|
|
composition and role of microtubules?
|
composed of alpha and beta tubulin; used in flagella, cilia, mitotic spindles, slow axoplasmic transport in neurons
|
|
Chediak-Higashi syndrome?
|
microtubule polymerization defect resulting in decreased phagocytosis, resuling in recurrent infections, partial alibinism, peripheral neuropathy
|
|
Kartagener's syndrome?
|
immotile cilia due to dynein defect, resulting in immotile sperm, bronchiectasis, recurrent sinusitis; associated with situs inversus
|
|
Kartagener's syndrome is associated with what anatomical abnormality?
|
situs inversus
|
|
MOA of cardiac glycosides (digoxin and digitoxin)
|
directly inhibit sodium-potassium ATPase, leading to indirect inhibition of sodium/calcium exchange, leading to increased calcium concentration and increased cardiac contractility
|
|
type I collagen
|
bone, skin, tendon, fascia, cornea, late wound repair
|
|
type II collagen
|
cartilage
|
|
type III collagen
|
reticulin: skin, blood vessles, uterus, fetal tissue, granulation tissue
|
|
type IV collagen
|
basement membrane/basal lamina
|
|
structure of collagen alpha chains (preprocollagen)?
|
Gly-X-Y (X and Y are proline, hydroxyproline, or hydroxylyine)
|
|
vitamin required as cofactor for hydroxylation of preprocollagen?
|
vitamin C
|
|
defect in Ehlers-Danlos syndrome?
|
faulty collagen synthesis, most commonly type III collagen
|
|
symptoms of Ehlers-Danlos? Associated with what other anatomical problems?
|
primary symptoms include hyperextensible skin, easy bruising, hypermobile joints; also associated with joint dislocation, berry aneurysms, organ rupture
|
|
defect in osteogenesis imperfecta? Symptoms?
|
abnormal type I collagen leading to multiple fractures, blue sclerae, hearing loss, dental imperfections
|
|
defect in alport's syndrome? Symptoms?
|
abnormal type IV collagen causing defects in basement membrane in kidney, ears, eyes; symptoms include progressive hereditary nephritis and deafness
|
|
defect in marfan's syndrome?
|
fibrillin
|
|
genetic defect that can lead to emphysema?
|
alpha-1-antitrypsin deficiency leading to excess elastase activity
|
|
southern/northern/western blot
|
southern = DNA
northern = RNA western = protein |
|
heteroplasmy
|
presence of both normal and mutated mitochondrial DNA, resulting in variable expression of a mitochondrial inherited disease
|
|
chromosome involved in prader-willi/angelman?
|
Chromosome 15
|
|
example of x-linked dominant disorder?
|
hypophosphatemic rickets (increased phosphate wasting at proximal tubule)
|
|
chromosome involved in autosomal dominant polycystic kidney disease?
|
Chromosome 16
|
|
chromosome involved in familial adenomatous polyposis?
|
Chromosome 5
|
|
Chromosome involved in huntington's disease?
|
Chromosome 4
|
|
region of brain that atrophies in huntington's disease? Neurotransmitters involved?
|
Caudate atrophy; decreased levels of GABA and Ach
|
|
Chromosome involved in Neurofibromatosis type 1?
|
Chromosome 17
|
|
Chromosome involved in neurofibromatosis type 2?
|
Chromosome 22
|
|
Genetic disorder causing bilateral acoustic schwannomas and juvenile cataracts?
|
Neurofibromatosis type 2 (chromosome 22)
|
|
Chromosome involved in von Hippel-Lindau disease?
|
Chromosome 3
|
|
Chromosome involved in cystic fibrosis?
|
Chromosome 7
|
|
Treatment for cystic fibrosis?
|
N-acetylcysteine to losen mucous plugs
|
|
gene affected in fragile X syndrome?
|
FMR1
|
|
diseases caused by trinucleotide repeat expansion?
|
Huntington's disease, myotonic dystrophy, Friedreich's ataxia, fragile X syndrome
|
|
Results of pregnancy quad screen seen in down sydrome?
|
decreased alpha-fetoprotein, increased beta-hCG, decreased estriol, increased inhibin A
|
|
Chromosome affected in cri-du-chat syndrome?
|
Chromosome 5
|
|
Chromosome affected in Williams syndrome?
|
Chromosome 7
|
|
Chromosome affected in DiGeorge and Velocardiofacial syndrome?
|
Chromosome 22 (CATCH 22)
C-cleft palate A-abnormal facies T-thymic aplasia C-cardiac defects H-hypocalcemia 2/2 parathyroid aplasia |
|
two enzymes involved in ethanol metabolism? Inhibitors?
|
alcohol dehydrogenase (inhibited by fomipizole)
acetaldehyde dehydrogenase (inhibited by disulfiram) |
|
location of enzymes involved in ethanol metabolism?
|
alcohol dehydrogenase located in cytosol;
acetaldehyde dehydrogenase located in mitochondria |
|
limiting reagent in ethanol metabolism?
|
NAD+
|
|
mechanism of hepatocellular steatosis seen in chronic alcoholism?
|
ethanol metabolism uses up NAD+, causing diversion of pyruvate to lactate, oxaloacetate to malate; this inhibits gluconeogenesis and stimulates fatty acid synthesis
|
|
what parts of metabolism take place in mitochondria?
|
fatty acid oxidation, acetyl-CoA production, TCA cycle, oxidative phosphorylation
|
|
what parts of metabolism take place in cytoplasm?
|
glycolysis, fatty acid synthesis, HMP shut, protein and steroid synthesis
|
|
which parts of metabolism utilize both mitochondria and cytoplasm?
|
Heme synthesis, Urea cycle, Gluconeogenesis
|
|
rate determining enzyme of glycolysis
|
phosphofructokinase-1
|
|
rate determining enzyme of gluconeogenesis
|
fructose-1,6-bisphosphatase
|
|
rate determining enzyme of TCA cycle
|
isocitrate dehydrogenase
|
|
rate determining enzyme of glycogen synthesis
|
glycogen synthase
|
|
rate determining enzyme of glycogenolysis
|
glycogen phosphorylase
|
|
rate determining enzyme of HMP shunt?
|
glucose-6-phosphate dehydrogenase
|
|
rate determining enzyme of de novo pyrimidine synthesis
|
carbamoyl phosphate synthetase II
|
|
rate determining enzyme of de novo purine synthesis
|
glutamine-PRPP amidotransferase
|
|
rate determining enzyme of urea cycle
|
carbamoyl phosphate synthetase I
|
|
rate determining enzyme of fatty acid synthesis
|
acetyl-CoA carboxylase
|
|
rate determining enzyme of fatty acid oxidation
|
carnitine acyltransferase I
|
|
rate determining enzyme of ketogenesis
|
HMG-CoA synthase
|
|
rate determining enzyme of cholesterol synthesis
|
HMG-CoA reductase
|
|
universal electron acceptors?
|
NAD+, NADP+, FAD+
|
|
when is NADPH used as supply of reducing equivalents?
|
anabolic processes
respiratory burst P-450 glutathione reductase |
|
where is glucokinase found?
|
in liver and beta cells of pancreas; low affinity/high capacity
|
|
complex II of electron transport chain?
|
succinate dehydrogenase
|
|
why can't muscle participate in gluconeogenesis?
|
lacks glucose-6-phosphatase
|
|
why can't even chain fatty acids be used to produce new glucose?
|
only odd chain fatty acids yield propionyl-CoA, which can enter TCA cycle as succinyl-CoA
|
|
purpose of HMP shunt?
|
to provide source of NADPH; does not use or produce ATP
|
|
essential fructosuria vs fructose intolerance?
|
essential fructosuria involves defect in fructokinase; benign/asymptomatic as fructose never enters cells
fructose intolerance is deficiency of aldolase B, leading to accumulation of fructose-1-phosphate in cells, causing decrease in available phosphate and inhibition of glycogenolysis and gluconeogenesis |
|
galactokinase deficiency vs classic galactosemia
|
galactokinase deficiency: galactose and galactitol accumulate in blood and urine; causes infantile cataracts; relatively mild;
classic galactosemia is deficiency of uridyl transferase, leading to accumulation of galactose-1-phosphate and toxic metabolites in cells;causes failure to thrive, jaundice, hepatomegaly, infantile cataracts, mental retardation |
|
Essential glucogenic amino acids?
|
Met, Val, Arg, His
|
|
Essential ketogenic amino acids?
|
Leu, Lys
|
|
Acidic amino acids?
|
Asp, Glu
|
|
Basic amino acids?
|
Arg, Lys, His
|
|
how does hyperammonemia lead to inhibition of TCA cycle?
|
excess NH4+ depletes alpha-ketoglutarate
|
|
inheritance of OTC deficiency?
|
x-linked recessive
|
|
Derivatives of phenylalanine?
|
tyrosine -> dopa -> dopamine -> NE -> Epi
|
|
Derivatives of tryptophan
|
Niacin -> NAD+/NADP+
Serotonin -> Melatonin |
|
Derivatives of Histidine
|
Histamine
|
|
Derivatives of Glycine
|
Porphyrin -> Heme
|
|
Derivatives of Arginine
|
Creatinine
Urea Nitric oxide |
|
Derivatives of Glutamate
|
GABA
Glutathione |
|
lens subluxation?
|
homocystinuria
|
|
three forms of homocystinuria?
|
1. cystationine synthase deficiency
2. decreased affinity of cystationine synthase for pyridoxal phosphate 3. homocysteine methyltransferase deficiency |
|
physical findings of homocystinuria?
|
tall stature, osteoprosis, kyphosis, lens subluxation, atherosclerosis
|
|
maple syrup urine disease?
|
blocked degradation of branched amino acids (Ile, Leu, Val)
|
|
Von Gierke's disease
|
type I glycogen storage disease; missing glucose-6-phosphatase; causes severe fasting hypoglycemia and hepatomegaly
|
|
Pompe's disease
|
type II glycogen storage disease; missing lysosomal alpha-1,4-glucosidase; causes cardiomegaly, early death
|
|
Cori's disease
|
type III glycogen storage disease; missing debranching enzyme (Alpha-1,6-glucosidase); fasting hypoglycemia; milder form, normal blood lactate levels
|
|
McArdle's disease
|
type V glycogen storage disease; missing skeletal muscle glycogen phosphorylase; cannot break down muscle glycogen leaving to painful cramps with strenuous exercise
|
|
Fabry's disease
|
lysosomal storage disease; missing alpha-galactosidase A leading to accumulated ceramide trihexoside
|
|
Findings in fabry's disease?
|
peripheral neuropathy of hands/feet, angiokeratomas, cardiovascular/renal disease
|
|
Gaucher's disease?
|
lysosomal storage disease; missing beta-glucocerebrosidase leading to accumulated glucocerebroside
|
|
Niemann-Pick disease?
|
lysosomal storage disease; missing sphingomyelinase leading to accumulated sphingomyelin
|
|
Tay-Sachs disease
|
lysosomal storage disease with defect in breakdown of phospholipids; missing hexosaminidase A leading to accumulated GM2 ganglioside
|
|
Krabbe's disease
|
lysosomal storage disease; missing galactocerebrosidase leading to accumulated galactocerebroside
|
|
Metachromatic leukodystrophy
|
lysosomal storage disease; missing arylsulfatase A leading to accumulated cerebroside sulfate
|
|
Hurler's syndrome
|
lysosomal storage disease; missing alpha-L-iduronidase leading to accumulated heparan sulfate and dermatan sulfate
|
|
Hunter's syndrome
|
lysosomal storage disease; missing iduronate sulfatase leading to accumulated heparan sulfate and dermatan sulfate
|
|
findings in Gaucher's disease
|
hepatosplenomegaly, aseptic necrosis of femur, crumpled tissue paper macrophages
|
|
findings in Niemann-Pick disease?
|
cherry red spot on macula with hepatosplenomegaly
|
|
findings Tay-Sachs disease?
|
cherry red spot on macula; NO hepatosplenomegaly; lysosomes with onion skin
|
|
Findings in Hurler's syndrome?
|
developmental delay, airway obstruction, hepatosplenomegaly, corneal clouding
|
|
Findings in Hunter's syndrome?
|
mild Hurler's (developmental delay, airway obstruction, hepatosplenomegaly); NO corneal clouding, +aggressive behavior
|
|
inheritance of lysosomal storage diseases?
|
all AR except for fabry's disease and hunter's syndrome (both XR)
|
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where does fatty acid degradation occur?
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in mitochondria
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where does fatty acid synthesis occur?
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in cytoplasm
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what is energy source during 100 meter sprint?
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stored ATP, creatine phosphate, anaerobic glycolysis
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what is energy source during marathon?
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glycogen and FFA oxidation
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what is energy source during days 1-3 of starvation state?
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1. hepatic glycogenolysis
2. adipose release of FFA 3. muscle and liver (shift fuel use from glucose to FFA) 4. hepatic gluconeogenesis from peripheral tissue lactate and alanine and from adipose tissue glycerol and propionyl-CoA |
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rate limiting step in cholesterol synthesis?
|
HMG-CoA reductase
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function of LDL
|
transports cholesterol from liver to tissues
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function of HDL?
|
transports cholesterol from periphery to liver
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apolipoproteins present in chylomicrons?
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B-48, A-IV, C-II, E
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apolipoproteins present in VLDL?
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B-100, C-II, E
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apolipoproteins present in IDL
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B-100, E
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apolipoproteins present in LDL
|
B-100
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apolipoproteins present in HDL?
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ApoA1, ApoA2
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what is increased in type I familial dyslipidemia?
|
chylomicrons -> elevated serum TG and cholesterol
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what is increased in type IIa familial dyslipidemia?
|
LDL -> elevated serum cholesterol
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what is increased in type IV familial dyslipidemia?
|
VLDL -> elevated serum TG
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