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Pyruvate kinase deficiency (PK)

General description

Clinical signs of tPyruvat kinase deficiency (PK) disease include exercise intolerance, weakness, heart murmur and splenomegaly. Pyruvate kinase (PK) is an enzyme critical to the energy production in red blood cells.

Breeds

Basenji, Beagle, Cairn Terrier, Labrador Retriever, Pug, West Highland White Terrier

Detailed description

Pyruvate kinase (PK) is an enzyme critical to the anaerobic glycolytic pathway of energy production in the erythrocyte. If erythrocytes are deficient in PK they are unable to sustain normal cell metabolism and hence are destroyed prematurely. In dogs the anaemia caused by this enzyme deficiency in erythrocytes is always severe. Also associated with the disease is a progressive myelofibrosis and osteosclerosis of unknown aetiology. This is, along with liver failure, the major cause of death in affected dogs. Clinical signs of the disease include exercise intolerance, weakness, heart murmur and splenomegaly.

Pyruvatkinase-Deficiency (PK) - Basenji

The symptoms described in this breed can be found in the text above.

Order details
Test number8015
Sample material0.5 ml EDTA blood, 2x cheek swab, 1x special swab (eNAT)
Test duration7-14 working days
Test specifications
Symptom complexhematologic
Inheritanceautosomal recessive
Causalitycausally
GenePKLR
MutationDEL
LiteratureOMIA:000844-9615

Pyruvatkinase-Deficiency (PK) - Beagle

The symptoms described in this breed can be found in the text above.

Order details
Test number8015
Sample material0.5 ml EDTA blood, 2x cheek swab, 1x special swab (eNAT)
Test duration7-14 working days
Test specifications
Symptom complexhematologic
Inheritanceautosomal recessive
Causalitycausally
GenePKLR
MutationG-A
LiteratureOMIA:000844-9615

Pyruvatkinase-Deficiency (PK) - Cairn Terrier, West Highland White Terrier

The symptoms described in this breed can be found in the text above.

Order details
Test number8015
Sample material0.5 ml EDTA blood, 2x cheek swab, 1x special swab (eNAT)
Test duration7-14 working days
Test specifications
Symptom complexhematologic
Inheritanceautosomal recessive
Causalitycausally
GenePKLR
MutationINS
LiteratureOMIA:000844-9615

Pyruvatkinase-Deficiency (PK) - Labrador Retriever

The symptoms described in this breed can be found in the text above.

Order details
Test number8015
Sample material0.5 ml EDTA blood, 2x cheek swab, 1x special swab (eNAT)
Test duration7-14 working days
Test specifications
Symptom complexhematologic
Inheritanceautosomal recessive
Causalitycausally
GenePKLR
MutationC-T
LiteratureOMIA:000844-9615

Pyruvatkinase-Deficiency (PK) - Pug

The symptoms described in this breed can be found in the text above.

Order details
Test number8015
Sample material0.5 ml EDTA blood, 2x cheek swab, 1x special swab (eNAT)
Test duration7-14 working days
Test specifications
Symptom complexhematologic
Inheritanceautosomal recessive
Causalitycausally
GenePKLR
MutationT-C
LiteratureOMIA:000844-9615