Search Result |
Top |
| Entry | Name | Description | Category | Pathway | Gene |
|---|---|---|---|---|---|
| H01096 | Pyruvate kinase deficiency | Pyruvate kinase (PK) deficiency is inherited metabolic disorder caused by mutations in PKLR that encodes both L-PK (expressed in liver, renal cortex, and small intestine) and R-PK (restricted to erythrocytes) ... | Inherited metabolic disorder | PKLR [HSA:5313] [KO:K12406] | |
| H02907 |
Elevated adenosine triphosphate of erythrocytes Pyruvate kinase hyperactivity |
... that affected individuals had elevated red cell pyruvate kinase activity and mild erythrocytosis. It has been reported that mutations in the PKLR gene causes hereditary increase of red blood cell ATP. | Hematologic disease | PKLR [HSA:5313] [KO:K12406] |
| [ KEGG | DISEASE | DRUG | MEDICUS ] |