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Maternal phenylketonuria

Disease definition

Maternal phenylketonuria (PKU) is a rare disorder of phenylalanine metabolism (see this term), an inborn error of amino acid metabolism, characterized by the development of microcephaly, growth retardation, congenital heart disease, facial dysmorphism and intellectual disability in nonphenylketonuric offspring of mothers with excess phenylalanine (Phe) concentrations.

ORPHA:2209

  • Synonym(s):
    • Hyperphenylalaninemic embryopathy
    • Maternal PKU
    • Maternal hyperphenylalaninemia
    • Phenylketonuric embryopathy
  • Prevalence: Unknown
  • Inheritance: Autosomal recessive 
  • Age of onset: Neonatal, Antenatal
  • ICD-10: E70.1
  • OMIM: 261600
  • UMLS: C0085547
  • MeSH: -
  • GARD: 3413
  • MedDRA: -

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