KEGG   DISEASE: Pyruvate kinase deficiencyHelp
Entry
H01096                      Disease                                

Name
Pyruvate kinase deficiency
  Subgroup
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
Human diseases [BR:br08402]
 Cardiovascular diseases
  Hematologic diseases
   H01096  Pyruvate kinase deficiency
Human diseases in ICD-11 classification [BR:br08403]
 05 Endocrine, nutritional or metabolic diseases
  Metabolic disorders
   Inborn errors of metabolism
    5C53  Inborn errors of energy metabolism
     H01096  Pyruvate kinase deficiency
BRITE hierarchy
Pathway
hsa00010  Glycolysis / Gluconeogenesis
hsa00230  Purine metabolism
hsa00620  Pyruvate metabolism
Gene
PKLR [HSA:5313] [KO:K12406]
Other DBs
ICD-11: 5C53.00
ICD-10: D55.2
OMIM: 266200 102900
Reference
  Authors
Zanella A, Bianchi P, Fermo E
  Title
Pyruvate kinase deficiency.
  Journal
Haematologica 92:721-3 (2007)
DOI:10.3324/haematol.11469
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)
DOI:10.1111/j.1365-2141.2005.05527.x
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
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