Ornithine transcarbamylase deficiency

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 inheritance

See also

Article information

rID: 72862
Synonyms or Alternate Spellings:
  • OTCD
  • OTC deficiency

ADVERTISEMENT: Supporters see fewers/no ads

Updating… Please wait.

 Unable to process the form. Check for errors and try again.

 Thank you for updating your details.