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.
- Citrulline supplementation
- Infantile liver transplantation
- Ornithine carbamoyltransferase deficiency
- Ornithine transcarbamylase deficiency
ASJC Scopus subject areas
- Endocrinology, Diabetes and Metabolism
- Molecular Biology