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| Entry | Name | Description | Category | Pathway | Gene |
|---|---|---|---|---|---|
| H02136 |
Branched-chain ketoacid dehydrogenase kinase deficiency BCKDK deficiency |
Branched-chain ketoacid dehydrogenase kinase (BCKDK) deficiency is a familial comorbid intellectual disability, autism, and epilepsy, caused by mutations in the BCKDK. Patients also showed abnormally low ... | Inherited metabolic disorder | BCKDK [HSA:10295] [KO:K00905] |
| [ KEGG | DISEASE | DRUG | MEDICUS ] |