Developmental outcomes with early orthotopic liver transplantation for infants with neonatal-onset urea cycle defects and a female patient with late-onset ornithine transcarbamylase deficiency

Pediatrics. 2004 Oct;114(4):e523-6. doi: 10.1542/peds.2004-0198.

Abstract

Urea cycle defects (UCDs) typically present with hyperammonemia, the duration and peak levels of which are directly related to the neurologic outcome. Liver transplantation can cure the underlying defect for some conditions, but the preexisting neurologic status is a major factor in the final outcome. Multicenter data indicate that most of the children who receive transplants remain significantly neurologically impaired. We wanted to determine whether aggressive metabolic management of ammonia levels after early referral/transfer to a metabolism center and early liver transplantation would result in better neurologic outcomes. We report on 5 children with UCDs, ie, 2 male patients with X-linked ornithine transcarbamylase deficiency and 2 male patients with carbamoyl phosphate synthase deficiency, all of whom had neonatal presentations and underwent orthotopic liver transplantation before 1 year of age, and 1 female patient with partial X-linked ornithine transcarbamylase deficiency that was intractable to medical therapy, who underwent transplantation at 35 months of age. Developmental testing with the Griffiths scale was performed on 3 occasions each, 12 months apart, up to 45 months after transplantation. Full-scale indices for 3 children who underwent early transplantation showed average developmental quotients of 67. All 5 children had metabolic cures. There were no deaths (30-month survival rate: 100%). One child is currently listed for repeat transplantation because of bile duct stenosis and cirrhosis. We conclude that early liver transplantation and aggressive metabolic management improve early neurologic outcomes for children with UCDs, but longer follow-up monitoring is needed.

Publication types

  • Case Reports
  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Ammonia / metabolism
  • Carbamoyl-Phosphate Synthase I Deficiency Disease / surgery*
  • Carbamoyl-Phosphate Synthase I Deficiency Disease / therapy
  • Child Development
  • Child, Preschool
  • Combined Modality Therapy
  • Female
  • Genetic Diseases, X-Linked
  • Humans
  • Infant, Newborn
  • Liver Transplantation*
  • Male
  • Ornithine Carbamoyltransferase Deficiency Disease / surgery*
  • Ornithine Carbamoyltransferase Deficiency Disease / therapy
  • Retrospective Studies
  • Treatment Outcome
  • Urea / metabolism

Substances

  • Ammonia
  • Urea