Reminder: Login to access new features and members-only content!

Register to be a member of our community. Its easy!

Register a new account

Already a member?

Log In here!

Donate

Did you find our content interesting or helpful? Help support the IPFD enhance health, well-being and welfare for dogs everywhere.

Jump to content
  •   Language
  • Sign Up

International Partnership for Dogs - Enhancing Dog Health, Well-Being, and Welfare - Join Us.

Pyruvate Kinase Deficiency

Breed: Pug

Generic Phene Data

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

General

Disease Name
Pyruvate Kinase Deficiency
Mutation
c.799C>T
Mutation 2
c.848T>C
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.

Breed Specific Data

Agrotis S.r.l.

GTP Name
Agrotis S.r.l.
Breed
Pug
Gene Name
PKLR
Mutation
c.799C>T; c.848T>C; c.994G>A

Antagene

GTP
GTP Name
Antagene
Breed
Pug
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
FCI Number
253
GTP Breed
Pug

BioBank AS

GTP Name
BioBank AS
Breed
Pug
Gene Name
PKLR
Mutation
c.799C>T; c.848T>C; c.994G>A

CAG GmbH Center for Animal Genetics

GTP Name
Center for Animal Genetics
Breed
Pug
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
FCI Number
253
GTP Breed
Pug

Certagen GmbH

GTP Name
Certagen GmbH
Breed
Pug
Gene Name
PKLR
Mutation
c.799C>T; c.848T>C; c.994G>A

CMSCH

GTP
GTP Name
CMSCH
Breed
Pug
Gene Name
PKLR
Mutation
c.799C>T; c.848T>C; c.994G>A

Embark

GTP
GTP Name
Embark
Breed
Pug
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
FCI Number
253
GTP Breed
Pug

EVG Diagnostics

GTP Name
EVG Molecular Diagnostics
Breed
Pug
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.

Genomia s.r.o

GTP Name
Genomia s.r.o
Breed
Pug
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
FCI Number
253
GTP Breed
Pug

Genoscoper Laboratories Oy

GTP Name
Genoscoper Laboratories Oy
Breed
Pug
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
FCI Number
253
GTP Breed
Pug

GenSol Diagnostics

GTP Name
GenSol Diagnostics
Breed
Pug
GTP Disease Name
Pyruvate Kinase Deficiency (Pug Type)
Gene Name
PKLR
Mutation
c.799C>T; c.848T>C; c.994G>A

INNO

GTP
GTP Name
INNO
Breed
Pug
Gene Name
PKLR
Mutation
c.799C>T; c.848T>C; c.994G>A

Laboratorios Labocor S.L.

GTP Name
Laboratorios Labocor S.L.
Breed
Pug
Gene Name
PKLR
Mutation
c.799C>T; c.848T>C; c.994G>A

Laboklin Gmbh & Co. KG

GTP Name
Laboklin Gmbh & Co. KG
Breed
Pug
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
FCI Number
253
GTP Breed
Pug

Paw Print Genetics

GTP Name
Paw Print Genetics
Breed
Pug
GTP Disease Name
Pyruvate Kinase Deficiency (Pug Type)
Gene Name
PKLR
Mutation
Point Mutation
Nature of test
mutation test
FCI Number
253
GTP Breed
Pug

PharmaDNA

GTP
GTP Name
PharmaDNA
Breed
Pug
Gene Name
PKLR
Mutation
c.799C>T; c.848T>C; c.994G>A

Independent Veterinary Laboratory POISK

GTP Name
Independent Veterinary Laboratory POISK
Breed
Pug
GTP Disease Name
Pyruvate Kinase Deficiency (Pug Type)
Gene Name
PKLR
Mutation
c.799C>T; c.848T>C; c.994G>A

Progènes-ADN

GTP Name
Progenes ADN
Breed
Pug
Gene Name
PKLR
Mutation
c.799C>T; c.848T>C; c.994G>A

Veterinary Genetics Laboratory

GTP Name
Veterinary Genetics Laboratory
Breed
Pug
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
FCI Number
253
GTP Breed
Pug

VetGen LLC

GTP Name
VetGen LLC
Breed
Pug
Gene Name
PKLR
Mutation
c.848T>C

VHL Genetics

GTP Name
VHL Genetics
Breed
Pug
Gene Name
PKLR
Mutation
c.799C>T; c.848T>C; c.994G>A

Wisdom Health (formerly Mars Veterinary)

GTP Name
Wisdom Health (formerly Mars Veterinary)
Breed
Pug
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
FCI Number
253
GTP Breed
Pug

Zoolyx

GTP
GTP Name
Zoolyx
Breed
Pug
Gene Name
PKLR
Mutation
c.799C>T; c.848T>C; c.994G>A
×
×
  • Create New...

Important Information

By using this site, you agree to our Terms of Use.