Skip to
  1. Homepage
  2. Rare diseases
  3. Search
Simple search

Simple search

(*) mandatory field


Other search option(s)

Carbamoyl-phosphate synthase deficiency

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 Neonatal
All ages
  • E72.2
MeSH -
  • 10058297


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.

(*) 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

Detailed information

Summary information
Emergency guidelines
Clinical practice guidelines
Article for general public
Clinical genetics review
Get Acrobat Reader
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.