Hyperammonemic coma in a patient with late-onset OTC deficiency

• Main Authors: V. D'Onofrio (Author), F. Poma (Author), A. Enea (Author), F. Santarelli (Author), C. Lovera (Author), M. Spada (Author)
• Format: Book
• Published: PAGEPress Publications, 2014-06-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

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...