3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome
3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome
Definition
Any 3-methylglutaconic aciduria in which the cause of the disease is a mutation in the SERAC1 gene.
Also known as 3-methylglutaconic aciduria caused by mutation in SERAC1, 3-methylglutaconic aciduria with deafness-encephalopathy-Leigh-like syndrome, 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome, MEGDEL, MEGDEL syndrome, MGCA6, SERAC1 3-methylglutaconic aciduria — per MONDO