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| Entry | Name | Description | Category | Pathway | Gene |
|---|---|---|---|---|---|
| H01567 |
Thiamine pyrophosphokinase deficiency Thiamine metabolism dysfunction syndrome 5 |
... global developmental delay. TPK deficiency is one of thiamine metabolism dysfunction syndrome caused by TPK1 mutations. TPK produces thiamine pyrophosphate (TPP). TPP is a cofactor for enzymes important in ... | Inherited metabolic disorder | TPK1 [HSA:27010] [KO:K00949] |
| [ KEGG | DISEASE | DRUG | MEDICUS ] |