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Maternal phenylketonuria

Disease definition

A rare disorder of phenylalanine metabolism, 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.


Classification level: Disorder
  • 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: -

Detailed information

Article for general public


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