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16 Cards in this Set

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Unpigmented eyes + hair and skin is oculocutaneous albinism - what is the inheritance pattern?
AR
What is the defect in albinism?
tyrosinase deficiency
What accumulates and what is decreased as a result of PKU?
acummulate phenylketones
decreased dopa, NE, Epi
A patient with what enzyme disorder will have musty odor to their urine and MR d/t the accumulation of neurotoxic products?
PKU - phenylketonuria
What enzyme disorder results in degenerative arthritis, darlky pigmented urine, and pigmentation of connective tissue?
Alkaptonuria
What increased in alkaptonuria?
homogentisate
What enzyme deficiency results in the accumulation of branched chain amino acids?
Maple Syrup Urine Disease
What is the inheritance pattern of Maple Syrup Urine Dz?
AR
What are the branched chain AA's?
leucine, Isoleucine, and valine
What is the result of Maple Syrup Urine Dz?
MR!! - evident by week 1 of age; extensive brain damage occurs
What enzyme deficiency requires decreased methionine diet and HIGH B6 supplementation + B12 and folate supplements?
homocysteinuria
What enzyme disorder results in MR, lens dislocation, increased CAD, and limited amount of ATP made?
homocysteinuria
Impaired renal absorption of cysteine, ornithine, arginine, and lysine results in what enzyme disorder?
cystinuria
Cystine urolithiasis is a result of impaired renal absorption of what AA's?
COAL
cysteine
ornithine
arginine
lysine
What enzyme disorder yields niacin deficiency: pellagra?
Hartnup disease
What is the cause of Hartnup disease?
decreased serum tryptophan