Fatal initial adult-onset presentation of urea cycle defect
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.
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.
SourceAvailable from: Jean-Marie TonnelierLa Presse Médicale 04/2014; · 1.17 Impact Factor
Transplantation 10/2013; 96(8):e63-4. DOI:10.1097/TP.0b013e3182a8b61b · 3.78 Impact Factor
[Show abstract] [Hide abstract]
ABSTRACT: IntroductionOrnithine transcarbamylase (OTC) deficiency is a X-linked inherited disorder characterized by hyperammoniemic encephalopathy in male neonates. However, there is an increased evidence of late-onset disease, including in adults.La Revue de Médecine Interne 10/2010; 31(10):709-711. DOI:10.1016/j.revmed.2010.02.008 · 1.32 Impact Factor