Urea Cycle Defects: Early-Onset Disease Associated with A208T Mutation in OTC Gene—Expanding the Clinical Phenotype
Joint Authors
Rincon, Alejandra
Suárez-Obando, Fernando
Sánchez, Ana Isabel
García, Mary
Source
Issue
Vol. 2017, Issue 2017 (31 Dec. 2017), pp.1-3, 3 p.
Publisher
Hindawi Publishing Corporation
Publication Date
2017-02-05
Country of Publication
Egypt
No. of Pages
3
Main Subjects
Abstract EN
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.
American Psychological Association (APA)
Sánchez, Ana Isabel& Rincon, Alejandra& García, Mary& Suárez-Obando, Fernando. 2017. Urea Cycle Defects: Early-Onset Disease Associated with A208T Mutation in OTC Gene—Expanding the Clinical Phenotype. Case Reports in Genetics،Vol. 2017, no. 2017, pp.1-3.
https://search.emarefa.net/detail/BIM-1145321
Modern Language Association (MLA)
Sánchez, Ana Isabel…[et al.]. Urea Cycle Defects: Early-Onset Disease Associated with A208T Mutation in OTC Gene—Expanding the Clinical Phenotype. Case Reports in Genetics No. 2017 (2017), pp.1-3.
https://search.emarefa.net/detail/BIM-1145321
American Medical Association (AMA)
Sánchez, Ana Isabel& Rincon, Alejandra& García, Mary& Suárez-Obando, Fernando. Urea Cycle Defects: Early-Onset Disease Associated with A208T Mutation in OTC Gene—Expanding the Clinical Phenotype. Case Reports in Genetics. 2017. Vol. 2017, no. 2017, pp.1-3.
https://search.emarefa.net/detail/BIM-1145321
Data Type
Journal Articles
Language
English
Notes
Includes bibliographical references
Record ID
BIM-1145321