Prenatal exclusion of the HHH syndrome

Prenat Diagn. 1995 May;15(5):474-6. doi: 10.1002/pd.1970150511.

Abstract

Prenatal diagnosis of the hyperornithinaemia, hyperammonaemia, and homocitrullinuria syndrome is described by the analysis of ornithine incorporation in second-trimester cultured amniotic fluid cells. An unaffected fetus was predicted and confirmed in the newborn child. This is the third reported prenatal diagnosis for this disorder and the second predicting an unaffected fetus.

Publication types

  • Case Reports

MeSH terms

  • Amino Acid Metabolism, Inborn Errors / diagnosis*
  • Ammonia / blood*
  • Amniotic Fluid / cytology
  • Cells, Cultured
  • Citrulline / analogs & derivatives*
  • Citrulline / urine
  • Female
  • Humans
  • Ornithine / blood
  • Ornithine / metabolism*
  • Pregnancy
  • Prenatal Diagnosis*
  • Syndrome

Substances

  • homocitrulline
  • Citrulline
  • Ammonia
  • Ornithine