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34 Cards in this Set
- Front
- Back
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What accumulates in the eyes of uncontrolled diabetics?
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Sorbitol- the eye lacks sorbitol dehydrogenase so sorbitol accumulates and causes osmotic damage
Cataracts, retinopathy |
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What tissues have sorbitol dehydrongenase?
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Livers, ovaries, and seminal vesicles (along with aldose reductase)
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Which tissues only have aldose reductase?
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Schwann cells, lens, retina, and kidneys
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What amino acids must be supplied by the diet?
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Met, Val, Arg, His
Ile, Phen, Thr, Trp, Leu, Lys |
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What amino acids are only essential during periods of growth?
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His and Arg
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What is the rate limiting step of the Urea Cycle?
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Carbamoyl phophate synthetase I
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What is the function of urea?
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Allows excess NH4 formed during the Urea Cycle to be converted to a form that can be excreted by the kidneys
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Where is urea formed?
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Liver
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What two amino acids are involved in the transport of Ammonium?
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Glutamate and Alanine
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What substrate of ammonium transport inhibits the TCA?
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alpha-ketoglutarate
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What happens in hyperammonemia?
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Excess NH4+ which depletes alpha-ketoglutarate and leads to TCA inhibition
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What are the symptoms of ammonia intoxication?
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tremor, slurring, somnolence, vomiting, cerebral edema, vision blurring
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Treatment for Hyperammonemia?
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Limit protein intake
Benzoate or phenylbutyrate |
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What mode of transmission is Ornithin Transcarbamoylase deficiency and how is it Dx?
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X-linked Recessive
Orotic Acid in blood and Urine Decreased BUN Sx of hyperammonemia |
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What are the derivatives of Tryptophan?
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Niacin (-->NAD/NADP)
Serotonin (--> Melatonin) |
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What is deficient in PKU?
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phenlalanin hydroxylase or tetrahdropiopterin cofactor
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PKU Symptoms?
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MR, Growth Retardation, Seizures, Fair Skin, Eczema, Must Body Odor
Phenokentones in Urine |
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PKU Treatment?
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decrease phenylalanine (aspartame)
increase tyrosine |
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What is deficienct in Alkaptonuria?
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Homogentisic acid oxidase (degradatin of tyrosine to fumarate)
AR; Benign Dark CT, brown pigmented sclera, black urine after standing, possible arthralgias |
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What is deficient in Albinism?
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Tyrosinase or Tyrosine Transport (possibly from lack of migration of neural crest cells)
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What are the findings in homocystinuria?
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high homocysteine in urine;
MR, osteoporosis, tall, kyphosis, lens subluxation (down and in), and atherosclerosis |
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What enzyme deficiency/decreased fx is present in homocystinuria?
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Cystationine Synthase
deficiency or decreased affinity for B12 Or Homoxysteine Methyltransferase |
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What defect leads to cystine kidney stones?
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Cysteine, Ornithine, Lysine and Arginine Renal Transporter in PCT
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What aa degradation is blocked in Maple Syrup Urine disease?
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Branched AA: Ile, Leu, Val
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What defect in aa transport can lead to pellagra?
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Neutral AA Transporter in Renal and Intestinal Epi Cells
Hartnup Disease (tryptophan in urine) |
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What is deficient in Von Gierke's Disease?
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Glucose 6 Phosphatase
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What are the findings in Von Gierke's Disease?
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severe fasting hypoglycemia
high glycogen content in liver high blood lactate hepatomegaly |
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What is deficient in Pompe's Disease?
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lysosomal alpha-1,4- glucosidase
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What are the findings in Pompe's disease?
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cardiomegaly early death
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What is deficient in Cori's Disease?
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alpha-1,6- glucosidase
Debranching enzyme |
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What are the findings in Cori's?
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Like Type I except normal blood lactate and gluconeogenesis is intact
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What is deficient in McArdle's Disease?
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Glycogen Phosphorylase
(skeletal muscle) |
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What are teh finding ins McArdle's?
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increased glycogen in the muscles that can not be broken down
painful muscle cramps myoglobinuria w strenuous exercise |
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What are the likages in glycogen?
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alpha 1,6 in branches
alpha 1, 4 in bonds |
