Management and outcome of neonatal-onset ornithine transcarbamylase deficiency following liver transplantation at 60 days of life

Mol Genet Metab. 2005 Apr;84(4):363-6. doi: 10.1016/j.ymgme.2004.12.011.

Abstract

Neonatal hyperammonemia secondary to X-linked ornithine transcarbamylase (OTC) deficiency carries a high risk of morbidity and mortality. Results of medical therapy are less than satisfactory. Experience with liver transplantation in very young affected infants is limited. We report a male newborn with severe OTC deficiency who underwent successful orthotopic, cadaveric liver transplantation at the age of 60 days. Although technically challenging in the neonatal period, liver transplantation should be considered early as the most promising treatment approach currently available.

Publication types

  • Case Reports

MeSH terms

  • Brain / diagnostic imaging
  • Cadaver
  • Developmental Disabilities / etiology
  • Female
  • Humans
  • Hyperammonemia / blood
  • Hyperammonemia / therapy
  • Infant
  • Infant Nutritional Physiological Phenomena
  • Infant, Newborn
  • Liver / enzymology
  • Liver Transplantation / methods*
  • Magnetic Resonance Imaging
  • Male
  • Ornithine Carbamoyltransferase Deficiency Disease / etiology
  • Ornithine Carbamoyltransferase Deficiency Disease / therapy*
  • Pregnancy
  • Radiography
  • Tissue Donors
  • Treatment Outcome