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フェニルケトン尿症
先天性遺伝子オレゴン, 代謝, neurology
[慢性]
または存在しない皮膚の色素減少した, 公正や光の髪, 発疹, 発達の遅れ
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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