OnlineIMD

Pyruvate kinase deficiency

  • Type
    Disease
  • External link(s)
    • Orphanet
    • IEMbase
    • VMH
  • Gene
    • PKLR / Pyruvate Kinase L/R
      • 1q22
      • OMIM
      • GnomAD
      • Ensembl
      • HGNC
      • VMH
      • LOVD
  • Gene product
    • Pyruvate kinase
  • Pathway
    • Glycolysis and gluconeogenesis
  • Disease group(s)
    • 3.3        Disorders of glycolysis