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Carbamoyl-phosphate synthase deficiency

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
OMIM
UMLS -
MeSH -
MedDRA
  • 10058297

Summary

Carbamoyl phosphate synthetase I deficiency (CPS1D) is a rare and severe disorder of urea cycle metabolism most commonly characterized by either a neonatal onset of severe hyperammonemia that occurs several days after birth and manifests with lethargy, failure to thrive, vomiting, hypothermia, seizures, coma and death or late-onset presentations in childhood or adulthood with milder symptoms of hyperammonemia.


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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 (2014)
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