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60 Cards in this Set
- Front
- Back
- 3rd side (hint)
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what is NADPH used in? (4 rxns)
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1) Anabolic processes
2) Respiratory Burst 3) P-450 4) Glutathione reductase |
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Differences between hexo and glucokinase
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Hexo: Ubiquitous, high affinity, inhibited by glucose-6-phosphate
Glucokinase: liver and B-cell of pancreas, low affinity, no direct inhibition, induced by insulin |
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list the pyruvate dehydrogenase coomplex:
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1) pyrophosphate (B1)
2) FAD (b2) 3) NAD (B3) 4) CoA (b5) 5) lipoic acid |
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vomiting, rice water stools, garlic breath?
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arsenic poisoning
what does arsenic inhibit? |
lipoic acid in pyruvate dehydrogenase complex) |
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how do you fix pyruvate dehydrogenase deficiency?
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increase intake of ketogenic nutrients
what are the only purely ketogenic AAs? |
lysine and Leucine |
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directly inhibit electron transport in ox phos causing a decreased proton gradient and block of ATP synthesis
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rotenone, CN-, antimycin A, CO
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directly inhibit mitochondrial ATPsynthase in ox phos causeing an increased proton gradient
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oligomycin
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increase the permeability of the mito membrane which consumes oxygen but produces heat since electron transport continues despite no ATP made
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thermogenin (brown fat), aspirin, 2,4-DNP
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irreversible enzyme in gluconeogenesis and their locations
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pyruvate carboxylase: mitochondria
PEP carboxykinse: cytosol Fructose 1,6-bisphosphonate: cytosol glucose 6-phosphatase: ER |
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why can muscle not participate in gluconeogenesis?
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it lacks glucose 6-phosphatase
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sites of the HMP shunt
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lactating mammary gland, liver, adrenal cortex, RBCs
point? |
to use abundant glucose- 6 phosphate as a source for NADPH |
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what are chronic granulomatous dz pts at risk for and why?
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infection by catalase positive bug (s. aureus, aspergillus) since these bugs neutrilize their own peroxide thus leaving WBCs without ROIs for fighting the infeciton
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fructose in urine and blood
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essential fructosuria due to a defect in fructokinase
ASYMPTOMATIC since fructose doesn't enter cells |
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hypoglycemia, jaundice, cirrhosis, and vomiting
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aldose B deficiency leading to Fructose intolerance
fructose 1-phosphate accumulates leading to less phosphate so less glycogenolysis and gluconeogenesis |
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failure to track items or develop a social smile
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infantile cataracts due to Galactokinase Deficiency
galactose in urine and blood |
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failure to thrive, jaundice, hepatomegaly, infantile cataracts, mental retardation
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Classic galactosemia due to absence of galactose 1-phosphate uridyltransferase
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where does sorbitol damage occur and why?
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osmotic damage, Schwann cell (periph neuropathy), lens, retina (retinopathy), and kidney (nephropathy) since they only have aldose reductase it accumulates and no sorbitol dehydrogenase like in other areas
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acidic aa?
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asp and glu
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basic aa?
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lys, arg, his
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Glucogenic aa?
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met, val, arg, his
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glucogenic/ketogenic:
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ile, phe, thr, trp
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tremor, slurring of speech, somnolence, vomiting, cerebral edema, blurring of vision
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Ammonia intoxication
what does that do? how do you treat it? |
depletes alpha ketoglutarate leading to inhibition of TCA cycle lactulose to acidify GI and trap NH4+ for excretion |
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hyperammonemia, low BUN, orotic acid in blood
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ornithine transcarbamoylase deficiency
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derivatives of phenylalanine
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tyrosine, thyroxine, dopa, melanin, dopamine, norepi, epi
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derivatives of tryptophan
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niacin, seratonin, melatonin
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derivatives of glycine
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porphyrin, heme
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breakdown products of
Dopamine? Norepi? Epi? |
HVA
VMA Metanephrines |
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mental retardation, growth retardation, seizures, fair skin, eczema, musty body odor
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PKU
treatment? |
no phenylalanine tyrosine becomes essential |
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dark connective tissue, brown sclera, urine turns black, arthralgias
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alkaptonuria/ochronosis
pathogenesis? |
deficiency in homogentisic acid oxidase leading to a buildup of tyrosine |
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causes of variable inheritance albinism?
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1) deficiency of tyrosinase
2) deficiency of tyrosine transporters 3) faulty migration of neural crest cells |
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4 mechanisms of AR homocystinuria (leading to excess homocysteine)
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1) cystathionine synthase deficiency
2) less affinity of cystathionine synthase for pyridoxal phosphate 3) homocysteine methyltransferase def 4) vitamin B12 def |
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mental retardation, osteoporosis, tall stature, kyphosis, lens subluxation and atherosclerosis
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homocystinuria
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defect of renal tubular amino acid transporter for cystein, ornithine, lysine, and arginine
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cystinuria (seen in children)
treatment? |
alkalinization of urine with acetazolamide |
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CNS defects and sweet smelling urine
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maple syrup urine disease
due to what? |
blockage of degradation of branched amino acids (ile, leu, val) due to low alpha-ketoacid dehydrogenase which leads to a build up of alpha keto acids in blood |
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What is Hartnup's disease?
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defective neutral amino acid transporter on renal tubules leading to tryptophan excretion in urine
what does this lead to? |
pellagra since tryptophan is a precursor of niacin |
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severe fasting hypoglycemia, high glycogen, hepatomegaly, elevated blood lactate
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Von Gierke's Disease
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Pompe's disease findings?
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cardiomegaly, liver and muscle findings
deficient enz? |
lysosomal aplha 1,4 glucosidase |
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fasting hypoglycemia, high glycogen, hepatomegaly, normal blood lactate
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Cori's disease
def? |
debranching enzyme |
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painful muscle cramps, myoglobinuria
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mcardle's disease
def? |
skeletal muscle glycogen phosphorylase |
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peripheral neuropathy, angiokeratomas, cardiovascular/renal disease
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Fabry's disease
def? |
alpha-galactosidase |
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hepatosplenomegaly, bone crises, aseptic necrosis of femus, macrophages that look like crumpled tissue paper
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Gaucher's disease (most common)
Build up of what? |
glucocerebroside |
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progressive neurodegeneration, hepatosplenomegaly, cherry red spot on macula, foam cells
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Nieman-Pick
what is deficient? |
sphingomyelinase |
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progressive neurodegeneration, cherry red spot on macula, lysosomes with onion skin, NO hepatosplenomegaly
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Tay Sachs
deficient? buildup? |
hexosaminidase A, GM2 ganglioside |
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peripheral neuropathy, optic atrophy, globoid cells
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Krabbe's dz
def? |
beta galactocerebrosidase |
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demyleination with ataxia, dementia
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metachromatic leukodystrophy
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developmental delay, gargoylism, airway obstruction, corneal clouding, hepatosplenomegaly
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Hurler's syndrome
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deficiency in mannose phosphorylase
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I-cell disease where secretion of lysomal contents goes our of cell
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mental retardation, aggression, NO corneal clouding
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Hunter's
hunters see clearly and aim for the X(XR) |
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what is the inheritance pattern of lysosomal storage diseases and glycogen storage diseases
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AR
Which two are XR? |
Fabry's and Hunter's |
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what does carnitine deficiency result in?
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inability to carry the long chain fatty acids into the mitochondria to be oxidized
results in weakness, hypotonia, and hypoketotic hypoglycemia |
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stalling of the TCA cycle which shunts glucose and FFA toward making ketone bodies is the result of what?
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oxaloacetate depletion due to prolonged starvation and diabetic ketoacidosis
in alcoholism, excess NADH shunts oxaloacetate to malate |
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what is the order of metabolic fuel use
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ATP and Creatine phosphate used up in seconds
Anaerobic glycolisis used for minutes Aerobic glycolysis/FA oxidation used for minutes to hours |
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how long does it take for glycogen stores to be depleted?
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one day
what mechanisms happen after that during starvation for 1-3 days? |
Adipose release of FFA, muscles shift use to FFA, hepatic gluconeogenesis from lactate, alanine, glycerol and propionyl CoA |
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chylomicron marker
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B-48
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found on surface of VLDL, IDL, LDL
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B-100
does what? |
binds ldl receptor |
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delivers dietary TGs to peripheral tissue
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chylomicron
what delivers hepatic TGs? |
VLDL |
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pancreatitis, hepatosplenomegaly, eruptive/pruritic xanthomas, no increased risk for atherosclerosis
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hyperchylomicronemia
defect? |
lipoprotein lipase deficiency (or Apo C-II alteration) |
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accelerated atherosclerosis, tendon xanthosmas, corneal arcus
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familial hypercholesterolemia
issue? inheritance pattern? |
absent or defective LDL receptors |
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hepatic overproduction of VLDL leads to?
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elevated blood levels of TG
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failure to thrive, steatorrhea, acanthocytosis, ataxia, night blindness
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abetalipoproteinemia
due to? |
inability to produce lipoproteins due to deficiencies in apoB48 and Apo B100 so there is an accumlation within enterocytes to due inability to export absorbed lipids as chylomicrons |
