Hyperammonemic coma in a patient with late-onset OTC deficiency

Hyperammonemic coma in a patient with late-onset OTC deficiency

Urea Cycle Disorders ( UCD ) are among the most common genetic diseases of the metabolism and ornithine transcarbamylase deficiency (OTC), an X-linked defect is the most frequent among them. It is responsible for hyperammonemia that can lead to chronic neurological illness and potentially to death i...

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Bibliographic Details
Main Authors: V. D’Onofrio, F. Poma, A. Enea, F. Santarelli, C. Lovera, M. Spada
Format: Article
Language:English
Published: PAGEPress Publications 2014-06-01
Series:La Pediatria Medica e Chirurgica
Subjects:
Hyperammonemic coma
OTC
Urea Cycle disorder
Online Access:http://www.pediatrmedchir.org/index.php/pmc/article/view/9

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