Hyperammonemic coma in an ornithine transcarbamylase mutation carrier following antepartum corticosteroids

J Perinatol. 2011 Oct;31(10):682-4. doi: 10.1038/jp.2011.23.

Abstract

Women who are carriers of the ornithine transcarbamylase (OTC) mutation are at risk for developing hyperammonemia during the postpartum period and at times of metabolic stress. We present a unique case of hyperammonemic coma occurring in an OTC mutation carrier during the antepartum period. Multiple factors, including the administration of antenatal corticosteroids, likely precipitated this critical condition. Clinicians should be aware of this life-threatening clinical presentation and be prepared to identify, treat, and prevent hyperammonemia in affected individuals.

Publication types

  • Case Reports

MeSH terms

  • Adult
  • Coma / etiology*
  • Female
  • Glucocorticoids / adverse effects
  • Glucocorticoids / therapeutic use
  • Heterozygote*
  • Humans
  • Hyperammonemia / diagnosis
  • Hyperammonemia / etiology*
  • Hyperammonemia / therapy
  • Mutation
  • Obstetric Labor, Premature / drug therapy
  • Ornithine Carbamoyltransferase / genetics
  • Ornithine Carbamoyltransferase Deficiency Disease / complications*
  • Ornithine Carbamoyltransferase Deficiency Disease / diagnosis
  • Ornithine Carbamoyltransferase Deficiency Disease / genetics
  • Pregnancy
  • Pregnancy Complications / diagnosis
  • Pregnancy Complications / genetics*

Substances

  • Glucocorticoids
  • Ornithine Carbamoyltransferase