• Jamie Lien, William L Nyhan, and Bruce A Barshop.
• Department of Pediatrics, University of California, San Diego, La Jolla, CA 92093-0830, USA.
• Arch Neurol Chicago. 2007 Dec 1;64(12):1777-9.

BackgroundOrnithine transcarbamylase (OTC) deficiency presents most commonly with neonatal hyperammonemic coma. The gene is on the X chromosome, but the disease may manifest as a dominant trait. Mutations that lead to later-onset presentations may lead to life-threatening disease and may be unrecognized, particularly when the first clinical disease occurs in adulthood.ObjectiveTo document the clinical and metabolic consequences of a mutation in the OTC gene.DesignCase reports.SettingA metabolic/biochemical genetic referral service.Main Outcome MeasuresClinical and biochemical observations in 3 generations of a family.ResultsA mutation in codon 208 of exon 6 in the OTC gene was found in a family in which the proband died of hyperammonemia at 52 years of age.ConclusionsDiagnosis of late-onset presentations of urea cycle defect in adults may be delayed. Heightened awareness could lead to effective treatment.

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