Kohn, B. and C. Fumi (2008). “Clinical course of pyruvate kinase deficiency in Abyssinian and Somali cats.” J Feline Med Surg 10(2): 145-53.
Pyruvate kinase (PK) is one of the key regulatory enzymes for energy generation in red blood cells (RBCs). A deficiency in one PK isoenzyme leads to energy deprivation within the RBCs, resulting in a shortened survival time and hemolysis. PK deficiency has been described in several species, including humans and dogs. The first case of feline PK deficiency was identified in 1992 in an Abyssinian cat. The disease has since been identified in the related Somali breed, as well as in a few domestic shorthair cats. PK deficiency is transmitted as an autosomal recessive trait. The molecular defect has been identified and a genetic screening test has been developed. The objective of this study performed in Berlin, Germany was to examine the clinical signs, laboratory parameters, and course of disease in Abyssinian and Somali cats with PK deficiency. Over a period ranging from under 1 year to over 11 years (median 4.3), the disease was monitored in 25 PK-deficient cats. According to the owners, 11 cats did not show signs of disease. In the other 14 cats, clinical signs included lethargy, diarrhea, pale mucous membranes, anorexia, weight loss, among others. Laboratory abnormalities included anemia, increased aggregated reticulocyte counts, hyperglobulinemia, hyperbilirubinemia, and increased liver enzymes. PK deficiency shows variation in age of onset and severity of signs. Abyssinian and Somali cats destined for breeding should be tested as PK-deficient cats can be asymptomatic.
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Josephine Deubler Genetic Disease Testing Laboratory, University of Pennsylvania