OnlineIMD
Ethylmalonic aciduria
(EMA)
Type
Phenotype
Associated genes
Gene list
ACADS
Short-chain acyl-CoA dehydrogenase deficiency
ETFA
ETFA-related MAD deficiency
ETFB
ETFB-related MAD deficiency
ETFDH
ETFDH-related MAD deficiency
ETHE1
Ethylmalonic encephalopathy
SQOR
Mitochondrial sulfide:quinone oxidoreductase deficiency
Disease group(s)
1.2 Organic acidurias