Genetic and biochemical approach to early prenatal diagnosis in a family with mut methylmalonic aciduria

Clin Genet. 2006 Jan;69(1):72-6. doi: 10.1111/j.1399-0004.2005.00547.x.

Abstract

Genetic and biochemical prenatal diagnosis was performed at 11 weeks of gestation in a family with a proband affected by mut methylmalonic aciduria (MMA) and homozygotes for the MUT gene c.643G>A (p.Gly215Ser) mutation. Both chorionic villus and amniotic fluid samples were used. The presence of high levels of methylmalonic acid and propionylcarnitine determined by gas chromatography/mass spectrometry and LC/MS/MS analysis, respectively, and the identification of the p.Gly215Ser at a homozygous level in foetal DNA allowed a certain, rapid and early diagnosis. To our knowledge, this is the first mut MMA prenatal diagnosis carried out by genetic and biochemical approach.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Amino Acid Metabolism, Inborn Errors / diagnosis*
  • Amino Acid Metabolism, Inborn Errors / genetics
  • Base Sequence
  • DNA Mutational Analysis
  • Family Health
  • Female
  • Gestational Age
  • Humans
  • Methylmalonic Acid / urine*
  • Molecular Sequence Data
  • Pregnancy
  • Prenatal Diagnosis / methods*

Substances

  • Methylmalonic Acid