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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)

Year introduced: 1992

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Tree Number(s): C10.228.140.163.100.687.500, C12.050.703.575, C16.320.565.100.766.500, C16.320.565.189.687.500, C18.452.132.100.687.500, C18.452.648.100.766.500, C18.452.648.189.687.500

MeSH Unique ID: D017042

Entry Terms:

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

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