propionic acidemia
MeSH: D056693ORPHA: 35
Overview
organic acidemia that involes a nonfunctional propionyl CoA carboxylase affecting conversion of aminio acids and fats into sugar for energy
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 propionic acidemia, sourced from HPO and Orphanet clinical annotations.
Intellectual disabilityGlobal developmental delayCardiomyopathyHypoglycemiaHyperammonemiaOrganic aciduriaConstipationHepatomegalyPropionyl-CoA carboxylase deficiencyAbnormality of immune system physiologyArrhythmia
Classification & Codes
MeSH Code
D056693Orphanet Code
ORPHA:35propionic acidemia
| MeSH | D056693 |
| Orphanet | ORPHA:35 |
| Treatments | 0 drug(s) |
| Symptoms on record | 11 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO