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Flashcards in Biochem metabolism Deck (129)
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What are the findings in homocystinuria?

lots of homocysteine in urine; mental retardation;
osteoporosis & tall stature;
Lens subluxation (down & in);
atherosclerosis (stroke & MI)


What is the cause of cystinuria?

AR defect of renal tubular AA transporter for COLA (cysteine, ornithine, lysine, arginine) in the PCT of kidneys


How will cystinuria present? What is the Tx?

excess cystine in urine leads to precipitation of hexagonal crystals & renal stag horn calculi

Tx is good hydration & urinary alkalinization


What makes up cystine? How is a cystine stone treated?

2 cysteines connected by disulfide bone

if stone then Acetazolimide (diuretic) & hydrate


Maple syrup urine disease is caused by what? what are the labs for it?

AR defect causing blocked degradation of branched amino acids (Ile, Leu, Val) due to decrease in alpha-ketoacid DH (B1) leading to increased alpha-ketoacids in blood (esp Leu)


What does maple syrup urine disease cause?

severe CNS defects;
mental retard;


I Love Vermont maple syrup from maple trees with Branches

maple syrup urine disease


What causes Hartnup disease?

AR dz w/ defective neutral AA transporter on renal & intestinal epithelial cells


What is the result of Hartnup disease?

tryptophan excreted in urine & decreased absorption from gut

leads to pellagra ( decreased B3/niacin) => diarrhea, dementia, dermatitis