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 May 2026
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Carbamoyl-phosphate synthetase 1 deficiency?
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Advocacy Organizations
Global Liver Institute
To improve the lives of individuals and families impacted by liver disease through promoting innovation, encouraging collaboration, and scaling optimal approaches to help eradicate liver diseases.
Louisiana Metabolic Disorders Coalition
We support, educate, and advocate for patients & families affected by metabolic disorders.
Mississippi Metabolics Foundation
Our mission at Mississippi Metabolics Foundation (MMF) is to advocate, educate, and support families in MS affected by genetic metabolic disorders/inborn errors of metabolism (IEM's). MMF promotes initiatives and further advancements in legislation, education, research, clinical trials, studies, therapies, targeted treatments, and eventual cures for IEM’s and all rare diseases.
flok Health (formerly National PKU News)
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Clinical Trials
For a list of clinical trials in this disease area, please click here.