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Carbamoyl-phosphate synthase deficiency

Orpha number ORPHA147
Synonym(s) CPS1 deficiency
Carbamoyl-phosphate synthase 1 deficiency
Carbamoyl-phosphate synthetase 1 deficiency
Carbamoyl-phosphate synthetase deficiency
Prevalence 1-9 / 1 000 000
Inheritance Autosomal recessive
Age of onset Childhood
ICD-10
  • E72.2
ICD-O -
OMIM
UMLS -
MeSH -
MedDRA
  • 10058297
SNOMED CT -

Summary

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 (2014)
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