Non-ketotic hyperglycinaemia: glycine/serine ratio in amniotic fluid--an unreliable method for prenatal diagnosis

Prenat Diagn. 1989 Jul;9(7):473-6. doi: 10.1002/pd.1970090704.

Abstract

We describe a prenatal diagnosis of a fetus at risk for non-ketotic hyperglycinaemia based on the glycine/serine ratio in amniotic fluid at 16 weeks of gestation. Although the glycine level and the glycine/serine ratio in amniotic fluid were within the normal range, the fetus was affected and therefore a false-negative prediction was made. The reliability of this method is questioned.

Publication types

  • Case Reports

MeSH terms

  • Amino Acid Metabolism, Inborn Errors / diagnosis*
  • Amniotic Fluid / analysis*
  • Female
  • Glycine / analysis*
  • Glycine / blood*
  • Humans
  • Pregnancy
  • Pregnancy Trimester, Second
  • Prenatal Diagnosis*
  • Serine / analysis*

Substances

  • Serine
  • Glycine