Pregnancy in a woman with maple syrup urine disease

J Inherit Metab Dis. 1998 Apr;21(2):89-94. doi: 10.1023/a:1005396823030.

Abstract

We present the favourable outcome of a pregnancy in a woman with maple syrup urine disease. Keeping the maternal plasma levels of the branched-chain amino acids between 100 and 300 mumol/L is compatible with delivery of a normal infant. Leucine tolerance increased progressively from the 22nd week of gestation from 350 to 2100 mg/day. The risk of metabolic decompensation in the postpartum period can be minimized by careful monitoring of the mother after delivery.

Publication types

  • Case Reports

MeSH terms

  • Adult
  • Animals
  • Female
  • Humans
  • Infant, Newborn
  • Leucine / administration & dosage
  • Leucine / blood
  • Maple Syrup Urine Disease / metabolism*
  • Pregnancy
  • Pregnancy Complications / metabolism*

Substances

  • Leucine