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Ornithine transcarbamylase deficiency

ORPHA664
Synonym(s) OCT deficiency
OTC deficiency
Ornithine carbamoyltransferase deficiency
Prevalence 1-9 / 100 000
Inheritance X-linked recessive
Age of onset Childhood
ICD-10
  • E72.2
OMIM
UMLS
  • C0268542
MeSH
  • D020163
MedDRA
  • 10052450

Summary

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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Detailed information

Summary information
Emergency guidelines
  • EN (2012,pdf)
Clinical practice guidelines
  • EN (2012)
Article for general public
  • NL (2011,pdf)
  • ES (2011,pdf)
  • FR (2011,pdf)
  • IT (2011,pdf)
  • PT (2011,pdf)
  • DE (2011,pdf)
  • EN (2011,pdf)
Clinical genetics review
  • EN (2013)
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