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| Entry | Name | Description | Category | Pathway | Gene |
|---|---|---|---|---|---|
| H00174 |
Methylmalonic aciduria Methylmalonic acidemia |
Methylmalonic aciduria (MMA) is caused by a deficiency of methylmalonyl-CoA mutase (mut type), which is a vitamin B12-dependent enzyme. Defects of adenosylcobalamin metabolism lead to variant forms of ... | Inherited metabolic disorder |
(mut) MMUT [HSA:4594] [KO:K01847] (cblA) MMAA [HSA:166785] [KO:K07588] (cblB) MMAB [HSA:326625] [KO:K00798] (cblC) MMACHC [HSA:25974] [KO:K14618] (cblC) PRDX1 [HSA:5052] [KO:K13279] (cblD) MMADHC [HSA:27249] [KO:K26006] (cblF) LMBRD1 [HSA:55788] [KO:K14617] (cblJ) ABCD4 [HSA:5826] [KO:K05678] (cblX) HCFC1 [HSA:3054] [KO:K14966] (TCblR) CD320 [HSA:51293] [KO:K06734] (MCE) MCEE [HSA:84693] [KO:K05606] |
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| H02221 | Methylmalonic aciduria and homocystinuria | Methylmalonic aciduria and homocystinuria (MAHC) is caused by defects of intracellular cobalamin (vitamin B12) metabolism. Derivatives of cobalamin are essential cofactors for enzymes required in intermediary ... | Inherited metabolic disorder |
(MAHCF) LMBRD1 [HSA:55788] [KO:K14617] (MAHCC) MMACHC [HSA:25974] [KO:K14618] (MAHCC) PRDX1 [HSA:5052] [KO:K13279] (MAHCD) MMADHC [HSA:27249] [KO:K26006] (MAHCJ) ABCD4 [HSA:5826] [KO:K05678] |
| [ KEGG | DISEASE | DRUG | MEDICUS ] |