Carbamoyl-phosphate synthetase 1 deficiency

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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 Data version December 2023

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Carbamoyl-phosphate synthetase 1 deficiency?

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Advocacy Organizations

Mississippi Metabolics Foundation

Mississippi Metabolics Foundation (MMF) was founded to raise awareness, educate, and provide support to those living or caring for someone with genetic metabolic disorders/inborn errors of metabolism (IEM).

Clinical Trials

For a list of clinical trials in this disease area, please click here.