Urea cycle defects : early-onset disease associated with A208T mutation in OTC gene-expanding the clinical phenotype
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Date
2017-02-05Authors
Sánchez Barbero, Ana IsabelGarcía Acero, Mary Alexandra
Suárez Obando, Fernando
Rincón Bolívar, Leidy Alejandra
Corporate Author(s)
Pontificia Universidad Javeriana. Facultad de Medicina. Instituto de Genética Humana
Type
Artículo de revista
ISSN
2090-6544 / 2090-6552 (Electrónico)
Pages
1-3
Item type
Reporte de caso
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English Title
Urea cycle defects : early-onset disease associated with A208T mutation in OTC gene-expanding the clinical phenotypeAbstract
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.
Link to the resource
https://www.hindawi.com/journals/crig/2017/1048717/Source
Case Reports in Genetics; (2017)
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