Clinical course of pyruvate kinase deficiency in Abyssinian and Somali cats

The objective of this study was to examine clinical signs, laboratory parameters, and course of disease in Abyssinian and Somali cats with pyruvate kinase (PK) deficiency. The clinical course of 25 PK-deficient cats was followed over a time period of 0.8-11.3 years (median 4.3). Eleven cats (age 0.8-7.8 years, median 4.4) did not show signs according to the owners. In 14 cats (age 0.1-5 years, median 1.7) the owners noted lethargy (10), diarrhoea (seven), pale mucous membranes (six), inappetence (six), poor coat quality (six), weight loss (four), icterus (four), and pica (two). Sixteen cats had been used for breeding at least once before diagnosis. Laboratory abnormalities included anaemia (70%), increased aggregated reticulocyte counts (94%), hyperglobulinaemia (80%), hyperbilirubinaemia (53%), and increased liver enzymes (47%). Six of 25 affected cats died (four) or were euthanased (two) at ages ranging from 1.3 to 11.3 years (median 4.1) presumably because of PK-deficiency. These findings emphasise that PK deficiency shows variation in age of onset and severity of signs. As PK-deficient cats can be asymptomatic testing for PK deficiency before breeding is strongly recommended.