Pyruvate kinase deficiency

Red cell pyruvate kinase (PK) deficiency
Pyruvate kinase hyperactivity

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.

Inherited metabolic disease; Hematologic disease

PKLR [HSA:5313] [KO:K12406]

PMID:17550841

Zanella A, Bianchi P, Fermo E

Pyruvate kinase deficiency.

Haematologica 92:721-3 (2007)
DOI:10.3324/haematol.11469

PMID:15982340

Zanella A, Fermo E, Bianchi P, Valentini G

Red cell pyruvate kinase deficiency: molecular and clinical aspects.

Br J Haematol 130:11-25 (2005)
DOI:10.1111/j.1365-2141.2005.05527.x

PMID:9090535

Beutler E, Westwood B, van Zwieten R, Roos D

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.

Hum Mutat 9:282-5 (1997)
DOI:10.1002/(SICI)1098-1004(1997)9:3<282::AID-HUMU13>3.0.CO;2-Z