3-methylglutaconic aciduria type 3
MeSH: C535311ORPHA: 67047
Overview
3-methylglutaconic aciduria that has material basis in mutation in the OPA3 gene
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 3-methylglutaconic aciduria type 3, sourced from HPO and Orphanet clinical annotations.
Visual impairmentNystagmusIntellectual disabilityAtaxiaDysarthriaChoreoathetosisGait disturbanceSpastic paraparesis3-Methylglutaconic aciduria
Classification & Codes
MeSH Code
C535311Orphanet Code
ORPHA:670473-methylglutaconic aciduria type 3
| MeSH | C535311 |
| Orphanet | ORPHA:67047 |
| Treatments | 0 drug(s) |
| Symptoms on record | 9 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO