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phenylketonuria
genetic or congenital, metabolic, neurology
[chronic]
decreased or absent skin pigment, delayed development, fair or light hair, rash
Phenylketonuria (PKU; IPA: UK /ˌfiːnʌɪlˌkiːtɘˈnjʊɘrɪɘ/ or /ˌfɛnʌɪlˌkiːtɘˈnjʊɘrɪɘ/, US /ˌfɛnɘlˌkitnˈjʊrɪɘ/ or /ˌfinɘlˌkitnˈjʊrɪɘ/) is a human genetic disorder in which the body does not contain the enzyme phenylalanine hydroxylase, necessary to metabolize phenylalanine to tyrosine, and converts phenylalanine instead to phenylpyruvic acid.
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