Lack of the pyruvate kinase enzyme causing an early destruction of red blood cells, leading to a more or less severe hemolytic anaemia
Symptoms Pale mucous membranes, lethargy, exercise intolerance abnormal bone density, liver failure, shortened life expectancy
Gene involved PKLR
Mutation tested c.433delC
Transmission mode : Autosomal recessive
Publication : Whitney et al. (1995). Genetic test for pyruvate kinase deficiency of Basenjis.
Gene involved PKLR
Mutation tested c.848T>C
Transmission mode : Autosomal recessive
Publication : Gultekin et al. (2012). Erythrocytic pyruvate kinase mutations causing hemolytic anemia, osteosclerosis, and seconday hemochromatosis in dogs.
Gene involved PKLR
Mutation tested c.1422_1423ins6pb
Transmission mode : Autosomal recessive
Publication : Skelly et al. (1999). Identification of a 6 base pair insertion in West Highland White Terriers with erythrocyte pyruvate kinase deficiency.
Gene involved PKLR
Mutation tested c.994G>A
Transmission mode : Autosomal recessive
Publication : Gultekin et al. (2012). Erythrocytic pyruvate kinase mutations causing hemolytic anemia, osteosclerosis, and seconday hemochromatosis in dogs.
Gene involved PKLR
Mutation tested c.799C>T
Transmission mode : Autosomal recessive
Publication : Gultekin et al. (2012). Erythrocytic pyruvate kinase mutations causing hemolytic anemia, osteosclerosis, and seconday hemochromatosis in dogs.