Version May 2024
| Disease (OMIM#) | Gene (OMIM#) | Protein | Inheritance | Homocystinuria |
| Mut0 (#251000) | MUT (#609058) | Methylmalonyl-CoA mutase | AR | No |
| Mut– (#251000) | MUT (#609058) | Methylmalonyl-CoA mutase | AR | No |
| CblA (#251100) | MMAA (#607481) | Metabolism of cobalamin associated A | AR | No |
| CblB (#251110) | MMAB (#607568) | Metabolism of cobalamin associated B | AR | No |
| CblC (#277400) | MMACHC (#609831) | MMACHC | AR | Yes |
| CblD (#277410) | MMADHC (#611935) | MMADHC | AR | No for variant 2 Yes for combined type (frameshift pathogenic variants in exon 5, exon 8, and intron 7) |
| CblF (#277380) | LMBRD1 (#612625) | LMBR1 domain-containing protein 1 | AR | Yes |
| CblJ (#614857) | ABCD4 (#603214) | Peroxisomal membrane protein 1-like | AR | Yes |
| CblX (#309541) | HCFC1 (#300019) | VP16 accessory protein | XLR | Yes |
| Methylmalonyl-CoA epimerase deficiency (#251120) | MCEE (#608419) | Methylmalonyl-CoA epimerase | AR | No |
| Transcobalamin receptor defect (#613646) | CD320 (#606475) | Transcobalamin receptor | AR | Yes |
| Transcobalamin II deficiency (#275350) | TCN2 (#613441) | Transcobalamin II | AR | Yes |
| Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria) (#612073) | SUCLA2 (#603921) | Succinate-CoA ligase, ADP-forming, beta subunit | AR | No |
| Mitochondrial DNA depletion syndrome 9 (encephalomyopathic type with methylmalonic aciduria) (#245400) | SUCLG1 (#611224) | Succinate-CoA ligase, alpha subunit | AR | No |
| Malonyl-CoA decarboxylase deficiency (#248360) | MLYCD (#606761) | Malonyl-CoA decarboxylase | AR | No |
| Combined malonic and methylmalonic aciduria (#614265) | ACSF3 (#614245) | Acyl-CoA synthetase family, member 3 | AR | No |
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