skip to main content


Search from vocabulary

Content language

| español français
Search help

Concept information

Preferred term

Phenylketonuria, Maternal  


  • A condition occurring in untreated or partially treated females with PHENYLKETONURIA when they become pregnant. This may result in damages to the FETUS, including MICROCEPHALY; MENTAL RETARDATION; congenital heart disease; FETAL GROWTH RETARDATION; and CRANIOFACIAL ABNORMALITIES. (From Am J Med Genet 1997 Mar 3;69(1):89-95)


  • Maternal Phenylalanine Hydroxylase Deficiency Disease
  • Maternal Phenylketonuria
  • Phenylalanine-Hydroxylase Deficiency Disease, Maternal
  • PKU, Maternal
  • Pregnancy in Phenylketonuria

In other languages

  • French

  • Déficit maternel en phénylalanine hydroxylase
  • Grossesse et phénylcétonurie
  • Hyperphénylalaninémie maternelle
  • PCU maternelle
  • Phénylcétonurie et grossesse


Download this concept:

RDF/XML TURTLE JSON-LD Created 5/30/91, last modified 6/20/17