phenylketonuria (Q194041)

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An amino acid metabolic disorder that is characterized by a mutation in the gene for the hepatic enzyme phenylalanine hydroxylase (PAH), rendering it nonfunctional.
  • F?lling's disease
  • PKU
  • maternal phenylketonuria
  • phenylalaninemia
  • Følling's disease
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Language Label Description Also known as
English
phenylketonuria
An amino acid metabolic disorder that is characterized by a mutation in the gene for the hepatic enzyme phenylalanine hydroxylase (PAH), rendering it nonfunctional.
  • F?lling's disease
  • PKU
  • maternal phenylketonuria
  • phenylalaninemia
  • Følling's disease

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