Pyruvate Kinase Deficiency

Gene involved

Mutation tested
c.693+304G>A (PKDef)

Transmission mode : Autosomal recessive
Age of onset : Variable. A few rare cases report a severe form early. The anaemia may be moderate and intermittently detectable. In milder cases, it may not be detected until later in life.

Publication : Grahn et al. (2012). Erythrocyte pyruvate kinase deficiency mutation identified in multiple breeds of domestic cats.