Search Result |
Top |
| Entry | Name | Description | Category | Pathway | Gene |
|---|---|---|---|---|---|
| H00407 | Peroxisomal beta-oxidation enzyme deficiency | Peroxisomal beta-oxidation enzyme deficiency is a group of inherited peroxisomal diseases caused by mutation of one of genes that encode peroxisomal fatty acid beta-oxidation system enzymes. The system ... | Inherited metabolic disorder |
ACOX1 [HSA:51] [KO:K00232] HSD17B4 [HSA:3295] [KO:K12405] AMACR [HSA:23600] [KO:K01796] SCP2 [HSA:6342] [KO:K08764] |
|
| H00874 |
Leukoencephalopathy with dystonia and motor neuropathy Sterol carrier protein 2 deficiency |
Leukoencephalopathy with dystonia and motor neuropathy is a disorder caused by a deficiency of sterol carrier protein-2 (SCPx), a peroxisomal enzyme with thiolase activity, which is required for the breakdown ... | Inherited metabolic disorder, Peroxisomal disease | SCP2 [HSA:6342] [KO:K08764] |
| [ KEGG | DISEASE | DRUG | MEDICUS ] |