- TypePhenotype
- Associated genes
- ABCD4 Methylmalonic aciduria and homocystinuria, cblJ type
- ACSF3 Combined malonic and methylmalonic aciduria
- ALDH6A1 Methylmalonate semialdehyde dehydrogenase deficiency
- HCFC1 Methylmalonic aciduria and homocystinuria, cblX type
- LMBRD1 Methylmalonic aciduria and homocystinuria, cblF type
- MCEE MCEE-related methylmalonic aciduria
- MMAA Methylmalonic aciduria, cblA type
- MMAB Methylmalonic aciduria, cblB type
- MMACHC Methylmalonic aciduria and homocystinuria, cblC type
- MMADHC Methylmalonic aciduria and homocystinuria, cblD type
- MMUT Methylmalonic aciduria, classical
- PRDX1 CcblC epimutation variant
- SUCLA2 SUCLA2-related succinate-CoA ligase deficiency
- SUCLG1 SUCLG1-related succinate-CoA ligase deficiency
- THAP11 Ronin deficiency
- ZNF143 ZNF143 deficiency
- Disease group(s)
Methylmalonic aciduria
(MMA)