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| Entry | Name | Description | Category | Pathway | Gene |
|---|---|---|---|---|---|
| H00835 |
Succinic semialdehyde dehydrogenase deficiency 4-Hydroxybutyric aciduria |
... nonprogressive ataxia, and hyporeflexia. The causative gene is aldehyde dehydrogenase 5 family, member A1 (ALDH5A1) encoding SSADH. SSADH is deficient in affected individuals impairing the formation of succinic ... | Inherited metabolic disorder | (SSADHD) ALDH5A1 [HSA:7915] [KO:K00139] |
| [ KEGG | DISEASE | DRUG | MEDICUS ] |