Generic Phene Data
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
OMIM
266200
Disease Code
PK
Test Type
Genetic Disease/Disorder
Synonyms/Related Terms
HA in Basenjis
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
Gene Name Text
pyruvate kinase, liver and RBC
Breed Specific Data
GenSol Diagnostics
Link to GTP
Breed
GTP Disease Name
Pyruvate Kinase Deficiency (Pug Type)
Gene Name
PKLR
Mutation
c.799C>T; c.848T>C; c.994G>A
Paw Print Genetics
Link to GTP
Breed
GTP Disease Name
Pyruvate Kinase Deficiency (Pug Type)
Gene Name
PKLR
Mutation
Point Mutation
Nature of test
mutation test
VetGen LLC
Link to GTP
GTP
Breed
Gene Name
PKLR
Mutation
c.848T>C
EVG Diagnostics
Link to GTP
GTP
Breed
Gene Name
PKLR
Mutation
c.848T>C
Nature of test
mutation test
GTP- or Breed-Specific Publications
J Vet Intern Med. 2012 Jul-Aug;26(4):935-44.
Wisdom Health (formerly Mars Veterinary)
Link to GTP
Breed
GTP Disease Name
Pyruvate Kinase Deficiency (Pug Type)
Gene Name
PKLR
Mutation
c.848T>C
Nature of test
mutation test
GTP- or Breed-Specific Publications
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 H
Application in the Breed
Carriers may be bred to normal animals (N/pk x N/N). Offspring should be tested before breeding. No breeding of two carriers (N/pk x N/pk) nor of affected animals (pk/pk). Chronic severe hemolytic anemia, weakness, and hepatosplenomegaly. Bone marrow and liver failure in mature animals
Inheritance
AR
Veterinary Genetics Laboratory
Link to GTP
Breed
GTP Disease Name
Pyruvate Kinase Deficiency (Pug Type)
Gene Name
PKLR
Mutation
c.848T>C
Nature of test
mutation test
GTP- or Breed-Specific Publications
Gultekin GI, K Raj, P Foureman, S Lehman, K Manhart, O Abdulmalik, U Giger (2012) Erythrocytic pyruvate kinase mutations causing hemolytic anemia, osteosclerosis, and secondary hemochromatosis in dogs. Journal of Veterinary Internal Medicine 26(4):935-944
Application in the Breed
Carriers may be bred to normal animals (N/pk x N/N). Offspring should be tested before breeding. No breeding of two carriers (N/pk x N/pk) nor of affected animals (pk/pk). Chronic severe hemolytic anemia, weakness, and hepatosplenomegaly. Bone marrow and liver failure in mature animals
Inheritance
AR
Laboklin Gmbh & Co. KG
Link to GTP
Breed
GTP Disease Name
Pyruvate Kinase Deficiency (Pug Type)
Gene Name
PKLR
Mutation
c.848T>C
Nature of test
mutation test
GTP- or Breed-Specific Publications
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 H
Application in the Breed
Carriers may be bred to normal animals (N/pk x N/N). Offspring should be tested before breeding. No breeding of two carriers (N/pk x N/pk) nor of affected animals (pk/pk). Chronic severe hemolytic anemia, weakness, and hepatosplenomegaly. Bone marrow and liver failure in mature animals
Inheritance
AR
Genoscoper Laboratories Oy
Link to GTP
Breed
GTP Disease Name
Pyruvate Kinase Deficiency (Pug Type)
Gene Name
PKLR
Mutation
c.848T>C
Nature of test
mutation test
GTP- or Breed-Specific Publications
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 H
Application in the Breed
Carriers may be bred to normal animals (N/pk x N/N). Offspring should be tested before breeding. No breeding of two carriers (N/pk x N/pk) nor of affected animals (pk/pk). Chronic severe hemolytic anemia, weakness, and hepatosplenomegaly. Bone marrow and liver failure in mature animals
Inheritance
AR
Embark
Link to GTP
GTP
Breed
GTP Disease Name
Pyruvate Kinase Deficiency (Pug Type)
Gene Name
PKLR
Mutation
c.848T>C
Nature of test
mutation test
GTP- or Breed-Specific Publications
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 H
Application in the Breed
Carriers may be bred to normal animals (N/pk x N/N). Offspring should be tested before breeding. No breeding of two carriers (N/pk x N/pk) nor of affected animals (pk/pk). Chronic severe hemolytic anemia, weakness, and hepatosplenomegaly. Bone marrow and liver failure in mature animals
Inheritance
AR
CAG GmbH Center for Animal Genetics
Link to GTP
Breed
GTP Disease Name
Pyruvate Kinase Deficiency (Pug Type)
Gene Name
PKLR
Mutation
c.848T>C
Nature of test
mutation test
GTP- or Breed-Specific Publications
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 H
Application in the Breed
Carriers may be bred to normal animals (N/pk x N/N). Offspring should be tested before breeding. No breeding of two carriers (N/pk x N/pk) nor of affected animals (pk/pk). Chronic severe hemolytic anemia, weakness, and hepatosplenomegaly. Bone marrow and liver failure in mature animals
Inheritance
AR
Antagene
Link to GTP
GTP
Breed
GTP Disease Name
Pyruvate Kinase Deficiency (Pug Type)
Gene Name
PKLR
Mutation
c.848T>C
Nature of test
mutation test
GTP- or Breed-Specific Publications
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 H
Application in the Breed
Carriers may be bred to normal animals (N/pk x N/N). Offspring should be tested before breeding. No breeding of two carriers (N/pk x N/pk) nor of affected animals (pk/pk). Chronic severe hemolytic anemia, weakness, and hepatosplenomegaly. Bone marrow and liver failure in mature animals
Inheritance
AR
Genomia s.r.o
Link to GTP
GTP
Breed
GTP Disease Name
Pyruvate Kinase Deficiency (Pug Type)
Gene Name
PKLR
Mutation
c.799C>T; c.848T>C; c.994G>A
Nature of test
mutation test
