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| Entry | Name | Description | Category | Pathway | Gene |
|---|---|---|---|---|---|
| H02546 | Hypervalinemia and hyperleucine-isoleucinemia | Hypervalinemia and hyperleucine-isoleucinemia is a very rare disease caused by mutations in BCAT2 that catalyze the first step in branched-chain amino acid (BCAA) catabolism. BCAT2 deficiency results in ... | Inherited metabolic disorder | BCAT2 [HSA:587] [KO:K00826] |
| [ KEGG | DISEASE | DRUG | MEDICUS ] |