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 December 2023
Newly diagnosed with
Carbamoyl-phosphate synthetase 1 deficiency?
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Advocacy Organizations
Louisiana Metabolic Disorders Coalition
We support, educate, and advocate for patients & families affected by metabolic disorders.
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).
Syndromes Without A Name (SWAN) Australia
Provide information, support and advocacy to families caring for a child with an undiagnosed or rare genetic condition.
Clinical Trials
For a list of clinical trials in this disease area, please click here.