| H01096 | |
| H number | H01096 |
| Name | Pyruvate kinase deficiency |
| Description | 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). The symptoms include jaundice, enlargement of the spleen, and hemolysis, leading to anemia. One hundred fifty-eight mutations associated with non-spherocytic haemolytic anaemia and eight polymorphic sites have been so far reported in the PKLR gene. It has also been found that a specific mutation in the PKLR gene causes hereditary increase of red blood cell ATP. |
| Category | Inherited metabolic disorder |
| Network | nt06031(H01096) Citrate cycle and pyruvate metabolism |
| Gene | PKLR [HSA:5313] [KO:K12406] |
| Pathogen | - |
| Env factor | - |
| Carcinogen | - |
| Drug | Mitapivat sulfate [DR:D11408] |
| Comment | - |
| Other DBs | ICD-11: 5C53.00 ICD-10: D55.2 OMIM: 266200 102900 |
| Reference | PMID:17550841 AUTHORS Zanella A, Bianchi P, Fermo E TITLE Pyruvate kinase deficiency. JOURNAL Haematologica 92:721-3 (2007) DOI:10.3324/haematol.11469 PMID:15982340 AUTHORS Zanella A, Fermo E, Bianchi P, Valentini G TITLE Red cell pyruvate kinase deficiency: molecular and clinical aspects. JOURNAL Br J Haematol 130:11-25 (2005) DOI:10.1111/j.1365-2141.2005.05527.x PMID:9090535 AUTHORS Beutler E, Westwood B, van Zwieten R, Roos D TITLE G-->T transition at cDNA nt 110 (K37Q) in the PKLR (pyruvate kinase) gene is the molecular basis of a case of hereditary increase of red blood cell ATP. JOURNAL Hum Mutat 9:282-5 (1997) DOI:10.1002/(SICI)1098-1004(1997)9:3<282::AID-HUMU13>3.0.CO;2-Z |