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
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Carbamoyl-phosphate synthetase 1 deficiency?
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