PKU

PKU: fair skin, musty ordor, seizure, mental retardation, AR FHx, due to mut Phe hydroxylase (Phe → Tyr)


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  • PKU
  • aka: Phenylketonuria,
  • fair skin, musty ordor, seizure, mental retardation, AR FHx, due to mut Phe hydroxylase (Phe → Tyr)
  • fair skin, musty ordor, seizure, mental retardation, AR FHx
  • Phenylketones in urine
  • Phe hydroxylase (Phe → Tyr), PAH gene mutation
  • diet: restrict Phe, take Tyr