Fatal initial adult-onset presentation of urea cycle defect

Department of Pediatrics, University of California, San Diego, La Jolla, CA 92093-0830, USA.
JAMA Neurology (Impact Factor: 7.01). 01/2008; 64(12):1777-9. DOI: 10.1001/archneur.64.12.1777
Source: PubMed

ABSTRACT 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.
To document the clinical and metabolic consequences of a mutation in the OTC gene.
Case reports.
A metabolic/biochemical genetic referral service.
Clinical and biochemical observations in 3 generations of a family.
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.
Diagnosis of late-onset presentations of urea cycle defect in adults may be delayed. Heightened awareness could lead to effective treatment.