Donate
Pyruvate Kinase Deficiency
Breed: West Highland White Terrier
Generic Phene Data
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
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
HSP Test-Specific Data
Agrotis S.r.l.
GTP
GTP Name
Agrotis S.r.l.
Breed
OMIA
Gene Name
PKLR
Mutation
c.1431_1432insAAGACC
BioBank AS
GTP
GTP Name
BioBank AS
Breed
OMIA
Gene Name
PKLR
Mutation
c.1431_1432insAAGACC
Certagen GmbH
GTP
GTP Name
Certagen GmbH
Breed
OMIA
Gene Name
PKLR
Mutation
c.1431_1432insAAGACC
CMSCH
GTP
GTP Name
CMSCH
Breed
OMIA
Gene Name
PKLR
Mutation
c.1431_1432insAAGACC
Embark
GTP
GTP Name
Embark
Breed
OMIA
GTP Disease Name
Pyruvate Kinase Deficiency (Terrier Type)
Gene Name
PKLR
Mutation
c.1431_1432insAAGACC
Nature of test
mutation test
GTP- or Breed-Specific Publications
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 Journa
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
85
GTP Breed
West Highland White Terrier
INNO
GTP
GTP Name
INNO
Breed
OMIA
Gene Name
PKLR
Mutation
c.1431_1432insAAGACC
Laboratorios Labocor S.L.
GTP
GTP Name
Laboratorios Labocor S.L.
Breed
OMIA
Gene Name
PKLR
Mutation
c.1431_1432insAAGACC
Laboklin Gmbh & Co. KG
GTP
GTP Name
Laboklin Gmbh & Co. KG
Breed
OMIA
GTP Disease Name
Pyruvate Kinase Deficiency (Terrier Type)
Gene Name
PKLR
Mutation
c.1431_1432insAAGACC
Nature of test
mutation test
FCI Number
85
GTP Breed
West Highland White Terrier
Orthopedic Foundation for Animals
GTP
GTP Name
Orthopedic Foundation for Animals
Breed
OMIA
GTP Disease Name
Pyruvate Kinase Deficiency (Terrier Type)
Gene Name
NR3C1
Mutation
c.1431_1432insAAGACC
Nature of test
mutation test
GTP- or Breed-Specific Publications
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 Journa
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
85
GTP Breed
West Highland White Terrier
Paw Print Genetics
GTP
GTP Name
Paw Print Genetics
Breed
OMIA
GTP Disease Name
Pyruvate Kinase Deficiency (Terrier Type)
Gene Name
PKLR
Mutation
Insertion
Nature of test
mutation test
FCI Number
85
PharmaDNA
GTP
GTP Name
PharmaDNA
Breed
OMIA
Gene Name
PKLR
Mutation
c.1431_1432insAAGACC
Progènes-ADN
GTP
GTP Name
Progenes ADN
Breed
OMIA
Gene Name
PKLR
Mutation
c.1431_1432insAAGACC
Veterinary Genetics Laboratory
GTP
GTP Name
Veterinary Genetics Laboratory
Breed
OMIA
GTP Disease Name
Pyruvate Kinase Deficiency (Terrier Type)
Gene Name
PKLR
Mutation
c.1431_1432insAAGACC
Nature of test
mutation test
GTP- or Breed-Specific Publications
Chapman BL, U Giger (1990) Inherited erythrocyte pyruvate kinase deficiency in the West Highland White Terrier. Journal of Small Animal Practice 31:610-616.
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
85
GTP Breed
West Highland White Terrier
VetGen LLC
GTP
GTP Name
VetGen LLC
Breed
OMIA
Gene Name
PKLR
Mutation
c.1431_1432insAAGACC
VHL Genetics
GTP
GTP Name
VHL Genetics
Breed
OMIA
Gene Name
PKLR
Mutation
c.1431_1432insAAGACC
Wisdom Panel - Kinship
GTP
GTP Name
Wisdom Panel - Kinship
Breed
OMIA
GTP Disease Name
Pyruvate Kinase Deficiency (Terrier Type)
Gene Name
PKLR
Mutation
c.1431_1432insAAGACC
Nature of test
mutation test
GTP- or Breed-Specific Publications
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 Journa
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
85
GTP Breed
West Highland White Terrier
Zoolyx
GTP
GTP Name
Zoolyx
Breed
OMIA
Gene Name
PKLR
Mutation
c.1431_1432insAAGACC
-
HGTD Quick Search
-
The portal for Genetic Testing Providers (labs); genetic tests, and tests by breed: as well as information on quality indicators and genetic counseling resources.
GOAL: Robust genetic testing supporting health improvements & a sustainable future for healthy dogs. -
HGTD Database Resources
How to use the HGTD
Using HGTD - YouTube Videos
HGTD Quality Indicators
Acronyms - Mode of Inheritance♦ 2020-New What is a Relevance Rating?
FAQs
Answers to frequently asked questions about the HGTD
Accreditation Basics
This brief overview may help you identify what types of accreditation are important to you, when choosing your genetic test provider.
Accreditation and Industry Standards
List of organizations throughout the world that are involved in matters of accreditation and establishing industry standards.
Choosing a Genetic Test Provider
Choosing a genetic test provider can be daunting. This short article helps you to consider what is important to you, and your dogs, in finding the right test provider for you. -
The HGTD's genetic counselling resources index provides access to basic introductory articles on genetics, articles on application of genetics in breed health management, and advanced work in technical genetics research. Breed-specific information is also available in our Pedigreed Dogs Database.
