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Concept information

Preferred term

Phenylketonuria, Maternal  

Type

  • Topical Descriptor

Entry terms

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

Note

  • check the tags PREGNANCY & FEMALE; consider also PHENYLALANINE HYDROXYLASE /defic

Scope note

  • 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)

History note

  • 1992

In other languages

URI

http://www.yso.fi/onto/mesh/D017042

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