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5 Cards in this Set
- Front
- Back
Phenylketonuria
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- Phe Hydroxylase deficiency - Musty odor -mental retardation - Phenylalanine elevated - Tx with diet |
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Homocystinuria
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- cystathionine beta synthase deficiency - Homocysteine accumulates in serum and increase excretion as well - Flush cheeks - Tall thin build - mental retardation - eye problems - Vascular thrombosis - Tx with Vitamin B6 and reduce methionine intake |
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Cystinuria
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- dull ache - chronic pain - Hematuria - stones in body |
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Maple Syrup Urine disease |
- sweet odor in urine (sotolon) |
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Tyrosinemia
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- Mental retardation - untreated can be fatal |