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Fatal initial adult-onset presentation of urea cycle defect
Jamie Lien1, William L Nyhan, Bruce A Barshop
1Department of Pediatrics, University of California, San Diego, La Jolla, CA 92093-0830, USA.
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.
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