Ornithine transcarbamylase deficiency

Last revised by David Luong on 12 Jul 2021

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


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.


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


It has an X-linked pattern of inheritance.

See also

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