Phenylalanine hydroxylase deficiency
Phenylalanine hydroxylase deficiency - a genetic disorder caused by a mutation in the gene that encodes the enzyme phenylalanine hydroxylase, resulting in a severe form of phenylketonuria.
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Source: Data courtesy of the U.S. National Library of Medicine. Since the data might have changed, please query MeSH on Phenylalanine hydroxylase deficiency for any updates.
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Contributors: Prab R. Tumpati, MD
