OnlineIMD
SERAC1 deficiency
(MEGDEL syndrome)
Synonym(s)
3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome (MEGDEL)
Type
Disease
External link(s)
Orphanet
IEMbase
Gene
SERAC1
/ SERAC1
6q25.3
OMIM
GnomAD
Ensembl
HGNC
VMH
LOVD
Gene product
Serine active site-containing 1 protein
Disease group(s)
19.1 Disorders of mitochondrial membrane biogenesis and remodeling