Late diagnosis of phenylketonuria in a Bedouin mother

Am J Med Genet. 1992 Dec 1;44(6):713-5. doi: 10.1002/ajmg.1320440603.

Abstract

We report on the first case of phenylketonuria in a Bedouin woman with 3 children having the phenylketonuria embryofetopathy. Herein, we discuss briefly hazards of late diagnosis of maternal phenylketonuria.

Publication types

  • Case Reports

MeSH terms

  • Abortion, Habitual / etiology
  • Adult
  • Child, Preschool
  • Female
  • Fetal Diseases / etiology*
  • Heart Defects, Congenital / embryology
  • Heart Defects, Congenital / etiology
  • Humans
  • Infant
  • Intellectual Disability / embryology
  • Intellectual Disability / etiology
  • Male
  • Maternal-Fetal Exchange
  • Microcephaly / embryology
  • Microcephaly / etiology
  • Phenylalanine / administration & dosage
  • Phenylalanine / metabolism
  • Phenylketonurias / diagnosis*
  • Phenylketonurias / diet therapy
  • Phenylketonurias / genetics
  • Pregnancy
  • Pregnancy Complications
  • Tyrosine / blood

Substances

  • Tyrosine
  • Phenylalanine