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Ornithine transcarbamylase deficiency

Synonym(s) OCT deficiency
OTC deficiency
Ornithine carbamoyltransferase deficiency
Prevalence 1-9 / 100 000
Inheritance X-linked recessive
Age of onset All ages
  • E72.4
  • C0268542
  • D020163
  • 10052450


Ornithine transcarbamylase deficiency (OTCD) is a disorder of urea cycle metabolism and ammonia detoxification (see this term) characterized by either a severe-neonatal onset disease found almost exclusively in males, or later-onset (partial) forms of the disease. Both present with episodes of hyperammonemia that can be fatal and which can lead to neurological complications.

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