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Phenylketonuria
amino acid metabolic disorder that is characterized by a mutation in the gene for the hepatic enzyme phenylalanine hydroxylase (PAH), rendering it nonfunctional
Pronunciation
/ˌfɛnəlˌkidəˈnjʊriə/
/ˌfɛnɪlˌkiːtəʊˈnjʊərɪə/
Categories
disease
hyperphenylalaninemia
rare disease