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Ornithine transcarbamylase deficiency

Orpha number ORPHA664
Synonym(s) OCT deficiency
OTC deficency
Ornithine carbamoyltransferase deficiency
Prevalence 1-9 / 100 000
Inheritance X-linked recessive
Age of onset Childhood
  • E72.2
  • C0268542
  • D020163
  • 10052450
  • 80908008


An Orphanet summary for this disease is currently under development. However, other data related to the disease are accessible from the Additional Information menu located on the right side of this page.

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Detailed information

Summary information
Emergency guidelines
  • EN (2012,pdf)
Clinical practice guidelines
  • EN (2012)
Clinical genetics review
  • EN (2013)
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