carbamoyl phosphate synthetase I deficiency disease
MeSH: D020165ORPHA: 147
Overview
amino acid metabolic disorder that involves accumulation of ammonia in the blood
Available Treatments (0)
No treatments linked yet
Clinical trials or compassionate use may be available — consult a specialist.
Clinical Presentation
Signs and symptoms associated with carbamoyl phosphate synthetase I deficiency disease, sourced from HPO and Orphanet clinical annotations.
SeizureHypotoniaEpisodic ammonia intoxicationHyperammonemiaRespiratory insufficiencyAminoaciduriaHypoargininemia
Classification & Codes
MeSH Code
D020165Orphanet Code
ORPHA:147carbamoyl phosphate synthetase I deficiency disease
| MeSH | D020165 |
| Orphanet | ORPHA:147 |
| Treatments | 0 drug(s) |
| Symptoms on record | 7 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO