Pyruvate Kinase Deficiency
Breeds
Relevance Rating: There is some evidence or research available for these breeds
Relevance Rating: The test is unknown, there is no evidence (i.e. research) available, or it has not been evaluated yet. These tests may or may not be meaningful for these breeds
GTPs
General
Disease Name
Pyruvate Kinase Deficiency
OMIA
844
Gene Name
PKLR
Mutation
c.799C>T
Mutation 2
c.848T>C
Mutation 3
c.1431_1432insAAGACC
Mutation 4
c.994G>A
Mutation 5
c.433delC
Mutation Notes
Beagle c.994G>A; Labrador Retriever c.799C>T; pug c.848T>C; WHWT c.1431_1432insAAGACC
Test Type
Genetic Disease/Disorder
Details
Pyruvate Kinase Deficiency, now identified in a number of breeds, leads to chronic severe hemolytic anemia, weakness, and hepatosplenomegaly causing bone marrow and liver failure in mature animals.
Details 2
Pyruvate kinase (PK) deficiency is an autosomal, recessive, inherited disease of Basenjis that causes chronic, regenerative, hemolytic anemia. Diagnostic methods currently used to identify carrier animals rely on measurement of erythrocyte PK activity and frequently give equivocal results. A genetic test incorporating polymerase chain reaction amplification of genomic DNA and restriction fragment length polymorphism has been developed to determine the PK genotype of Basenjis. (Whitney et al, 1995)
Published
Whitney, K.M., Goodman, S.A., Bailey, E.M., Lothrop, C.D. : The molecular basis of canine pyruvate kinase deficiency Experimental Hematology 22:866-874, 1994. Pubmed reference: 7520391.
Published 2
Skelly, B.J., Wallace, M., Rajpurohit, Y.R., Wang, P., Giger, U. : Identification of a 6 base pair insertion in West Highland White Terriers with erythrocyte pyruvate kinase deficiency American Journal of Veterinary Research 60:1169-1172, 1999. Pubmed reference: 10490091., Inal Gultekin, G., Raj, K., Foureman, P., Lehman, S., Manhart, K., Abdulmalik, O. and Giger, U. (2012), Erythrocytic Pyruvate Kinase Mutations Causing Hemolytic Anemia, Osteosclerosis, and Secondary Hemochromatosis in Dogs. Journal of Veterinary Internal Medicine, 26: 935?944. doi: 10.1111/j.1939-1676.2012.00958.x
Published 3
Inal Gultekin, G., Raj, K., Foureman, P., Lehman, S., Manhart, K., Abdulmalik, O. and Giger, U. (2012), Erythrocytic Pyruvate Kinase Mutations Causing Hemolytic Anemia, Osteosclerosis, and Secondary Hemochromatosis in Dogs. Journal of Veterinary Internal Medicine, 26: 935?944. doi: 10.1111/j.1939-1676.2012.00958.x
Published 4
Whitney, K.M., Lothrop, C.D. : Genetic test for pyruvate kinase deficiency of basenjis Journal of the American Veterinary Medical Association 207:918-921, 1995. Pubmed reference: 7559024.
Body/System/Process
Metabolic
OMIA Url
Inheritance
AR
Breed Specific Info
Researched Breeds
Basenji, Beagle, Cairn Terrier, West Highland White Terrier
