KEGG   DISEASE: H01096Help
Entry
H01096                      Disease                                

Name
Pyruvate kinase (PK) deficiency, including:
Red cell pyruvate kinase (PK) deficiency;
Pyruvate kinase hyperactivity
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 disease; Hematologic disease
BRITE hierarchy
Pathway
Glycolysis / Gluconeogenesis
Purine metabolism
Pyruvate metabolism
Gene
PKLR [HSA:5313] [KO:K12406]
Other DBs
ICD-10: 
OMIM: 
Reference
  Authors
Zanella A, Bianchi P, Fermo E
  Title
Pyruvate kinase deficiency.
  Journal
Haematologica 92:721-3 (2007)
Reference
  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)
Reference
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)
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