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Maternal hyperphenylalaninemia

Orpha number ORPHA2209
Synonym(s) Hyperphenylalaninemic embryopathy
Maternal PKU
Maternal phenylketonuria
Phenylketonuric embryopathy
Prevalence 1-9 / 100 000
Inheritance
  • Sporadic
Age of onset Neonatal/infancy
ICD-10
  • E70.1
  • P00.8
OMIM
UMLS
  • C0085547
MeSH -
MedDRA -
SNOMED CT
  • 297225000

Summary

Maternal hyperphenylalaninemia (HPA) 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, and intellectual disability in nonphenylketonuric offspringof mothers with excess phenylalanine (Phe) concentrations.


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Detailed information

Summary information
Article for general public
  • FR (2012,pdf)
Clinical genetics review
  • EN (2013)
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