Successful pregnancy in a woman with mut- methylmalonic acidaemia

J Inherit Metab Dis. 2002 May;25(2):133-4. doi: 10.1023/a:1015632911801.

Abstract

We report on a favourable pregnancy in a woman affected by mut- methylmalonic acidaemia. Under vitamin B12 and carnitine therapy she remained symptom-free throughout pregnancy, labour, delivery and the postpartum period and gave birth to a term, healthy female newborn. At follow-up, the child shows normal somatic and neurocognitive development.

Publication types

  • Case Reports

MeSH terms

  • Adult
  • Carnitine / blood
  • Carnitine / therapeutic use
  • Female
  • Humans
  • Metabolism, Inborn Errors / complications*
  • Metabolism, Inborn Errors / drug therapy
  • Methylmalonic Acid / blood*
  • Pregnancy
  • Pregnancy Complications*
  • Pregnancy Outcome
  • Vitamin B 12 / therapeutic use

Substances

  • Methylmalonic Acid
  • Vitamin B 12
  • Carnitine