title: Urea Cycle Defects: Early-Onset Disease Associated with A208T Mutation in OTC Gene-Expanding the Clinical Phenotype.
abstract: Ornithine transcarbamylase deficiency (OMIM: 311250) is the most common disorder of urea cycle disorders, accounting for nearly 50% of all cases. We report a case of a two-month- old male patient, who attends our medical genetics consultation because of low citrulline levels and elevated glutamine to citrulline ratio detected by expanded newborn screening with tandem mass spectrometry. He is an asymptomatic male with a normal physical examination and appropriate neurodevelopmental milestones. The patient has a family history of one older brother who died at 18 months old from severe and sudden hyperammonemia and a maternal aunt who suddenly died at two years old. He had high plasma ammonium concentration and a confirmed OTC mutation (p.A208T). Usually, this mutation causes OTC deficiency of late onset in adult males. However, this report raises awareness about mutations previously described as a late-onset causing disease, which can cause severe hyperammonemia and high risk of dying at an early age.
authors.affiliation: Instituto de Genética Humana, Facultad de Medicina, Pontificia Universidad Javeriana, Bogotá D.C., Colombia.
authors.forename: Ana Isabel
authors.initials: AI
authors.lastname: Sánchez
authors.affiliation: Instituto de Genética Humana, Facultad de Medicina, Pontificia Universidad Javeriana, Bogotá D.C., Colombia.
authors.forename: Alejandra
authors.initials: A
authors.lastname: Rincón
authors.affiliation: Instituto de Genética Humana, Facultad de Medicina, Pontificia Universidad Javeriana, Bogotá D.C., Colombia.
authors.forename: Mary
authors.initials: M
authors.lastname: García
authors.affiliation: Instituto de Genética Humana, Facultad de Medicina, Pontificia Universidad Javeriana, Hospital Universitario San Ignacio, Bogotá D.C., Colombia.
authors.forename: Fernando
authors.identifier: 0000-0001-6336-5347
authors.initials: F
authors.lastname: Suárez-Obando