Definition for phenylketonuria

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. more

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. Left untreated, the resulting accumulation of phenylpyruvic acid can cause brain damage and progressive mental retardation. The incidence of occurrence of PKU is about 1 in 15,000 births, but the incidence varies widely in different human populations from 1 in 4,500 births among the population of Ireland to fewer than one in 100,000 births among the population of Finland. Phenylketonuria can also exist in mice, which have been extensively used in experiments into the correct treatment of PKU. less