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Jamie Lien, MD; William L. Nyhan, MD, PhD; Bruce A. Barshop, MD, PhD

Arch Neurol. 2007;64(12):1777-1779.

Background  Ornithine 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.

Objective  To document the clinical and metabolic consequences of a mutation in the OTC gene.

Design  Case reports.

Setting  A metabolic/biochemical genetic referral service.

Main Outcome Measures  Clinical and biochemical observations in 3 generations of a family.

Results  A 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.

Conclusions  Diagnosis of late-onset presentations of urea cycle defect in adults may be delayed. Heightened awareness could lead to effective treatment.

Author Affiliations: Department of Pediatrics, University of California, San Diego, La Jolla.