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Article

Hyperammonemic coma in a patient with late-onset OTC deficiency.

La Pediatria medica e chirurgica : Medical and surgical pediatrics - 30 Jun 2014

D'Onofrio V, Poma F, Enea A, Santarelli F, Lovera C, Spada M

Abstract excerpt

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 in case of delayed diagnosis and treatment. With regards to the OTC deficiency there is great clinical heterogeneity...

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Identifiers

PMID: 25573644
DOI: 10.4081/pmc.2014.9

Genes

OTC

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Source receipt: pubmed, retrieved 7 Sept 2026.

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