USMLE (Fach) / Biochemistry - Genetics (Lektion)
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Phenylketonuria
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- Phenylalanine hydroxylase deficiency
- infants are normal at birth
If untreated:- slow development- severe mental retardation- seizures- musty body odor- pale skin and white-blonde hair
- Treatment: diet restricted in phenylalanine- should avoid aspartame (artificial sweetener), which contains phenylalanine
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