Genetics Flashcards
What is PFK deficiency?
Canine Phosphofructokinase (PFK) deficiency is an autosomal recessive genetic disease which prevents the metabolism of glucose into available energy resulting in exercise intolerance and muscle disease in Cocker Spaniels and Springer Spaniels. PFK deficiency also destroys red blood cells leading to severe hemolytic anemia.
What is PK deficiency?
Pyruvate kinase deficiency (PKDef) is an inherited genetic disease that causes severe hemolytic anemia that is caused by a defect in the enzyme pyruvate kinase. It results in a decreased amount of ATP to the RBC. Seen in Basenji’s, Beagle, Pugs, Dachs, Chihuahua, Abyssinian, and Sommali’s. Fatal and usually do not live past 4 years old.