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.
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.
Authors: Adrien Bigot; Paul Brunault; Christian Lavigne; François Feillet; Sylvie Odent; Elsa Kaphan; Christel Thauvin; Vanessa Leguy; Pierre Broué; Michel C Tchan; François Maillot Journal: Mol Genet Metab Rep Date: 2017-07-06