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