3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome
ORPHA: 352328
Overview
3-methylglutaconic aciduria that has material basis in homozygous or compound heterozygous mutation in the SERAC1 gene on chromosome 6q25
Available Treatments (0)
No treatments linked yet
Clinical trials or compassionate use may be available — consult a specialist.
Classification & Codes
Orphanet Code
ORPHA:3523283-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome
| Orphanet | ORPHA:352328 |
| Treatments | 0 drug(s) |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO