Ornithine transcarbamylase deficiency

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Ornithine transcarbamylase deficiency (OTCD) is a form of hyperammonemic encephalopathy. It can have variable levels of severity.

Epidemiology

It is considered the most common inborn error of metabolism of the urea cycle, with an incidence of one case per 14,000 live births.

Pathology

It is characterized by signs and symptoms of encephalopathy, which are induced by the accumulation of precursors of urea, principally ammonia and glutamine.

Genetics

It has an X-linked inheritance

See also

  • urea cycle disorders