x

Search for a rare disease

* (*) mandatory field
Suggest an update

(*) Required fields.

Attention: Only comments seeking to improve the quality and accuracy of information on the Orphanet website are accepted. For all other comments, please send your remarks via contact us. Only comments written in English can be processed.


Captcha image

Ornithine transcarbamylase deficiency

Disease definition

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.

ORPHA:664

  • Synonym(s):
    • OCT deficiency
    • OTC deficiency
    • Ornithine carbamoyltransferase deficiency
  • Prevalence: 1-9 / 100 000
  • Inheritance: X-linked recessive 
  • Age of onset: Neonatal, All ages
  • ICD-10: E72.4
  • OMIM: 311250
  • UMLS: C0268542
  • MeSH: D020163
  • GARD: 8391
  • MedDRA: 10052450

Additional information

Specialised Social Services

The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.