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