Carbamoyl-phosphate synthetase 1 deficiency
Synonyms: CPS1 deficiency | CPS1D | Carbamoyl-phosphate synthetase I deficiency | Carbamoyl-phosphate synthetase deficiency
A rare severe disorder of urea cycle metabolism typically characterized by either a neonatal-onset of severe hyperammonemia that occurs few days after birth and manifests with lethargy vomiting hypothermia seizures coma and death or a presentation outside the newborn period at any age with (sometimes) milder symptoms of hyperammonemia.
Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.
Reference: Access aggregated data from Orphanet at Orphadata.
Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http://www.orphadata.org. Data version April 2024
Newly diagnosed with
Carbamoyl-phosphate synthetase 1 deficiency?
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Advocacy Organizations
flok Health (formerly National PKU News)
National PKU News provides resources and support for individuals, families, and clinicians managing PKU (Phenylketonuria) and other inborn errors of metabolism. Our mission is to leverage innovation, insight, and research to improve the health, well-being, and daily lives of those with PKU and other IEMs.
Clinical Trials
For a list of clinical trials in this disease area, please click here.