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

Regina Ensenauer, Mendel Tuchman, Mounif El-Youssef, Suresh Kotagal, Michael B. Ishitani, Dietrich Matern, Dusica Babovic-Vuksanovic

Research output: Contribution to journalArticlepeer-review

15 Scopus citations

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.

Original languageEnglish (US)
Pages (from-to)363-366
Number of pages4
JournalMolecular genetics and metabolism
Volume84
Issue number4
DOIs
StatePublished - Apr 2005

Keywords

  • Citrulline supplementation
  • Hyperammonemia
  • Infantile liver transplantation
  • Ornithine carbamoyltransferase deficiency
  • Ornithine transcarbamylase deficiency

ASJC Scopus subject areas

  • Endocrinology, Diabetes and Metabolism
  • Biochemistry
  • Molecular Biology
  • Genetics
  • Endocrinology

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