Pyruvatkinase-Defizienz (PK)
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 number | 8015 |
| Sample material | 0.5 ml EDTA blood, 2x cheek swab, 1x special swab (eNAT) |
| Test duration | 7-14 working days |
Test specifications
| Symptom complex | hematologic |
| Causality | causally |
| Gene | PKLR |
| Mutation | DEL |
| Literature | OMIA:000844-9615 |
Pyruvatkinase-Deficiency (PK) - Beagle
The symptoms described in this breed can be found in the text above.
Order details
| Test number | 8015 |
| Sample material | 0.5 ml EDTA blood, 2x cheek swab, 1x special swab (eNAT) |
| Test duration | 7-14 working days |
Test specifications
| Symptom complex | hematologic |
| Causality | causally |
| Gene | PKLR |
| Mutation | G-A |
| Literature | OMIA: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 number | 8015 |
| Sample material | 0.5 ml EDTA blood, 2x cheek swab, 1x special swab (eNAT) |
| Test duration | 7-14 working days |
Test specifications
| Symptom complex | hematologic |
| Causality | causally |
| Gene | PKLR |
| Mutation | INS |
| Literature | OMIA:000844-9615 |
Pyruvatkinase-Deficiency (PK) - Labrador Retriever
The symptoms described in this breed can be found in the text above.
Order details
| Test number | 8015 |
| Sample material | 0.5 ml EDTA blood, 2x cheek swab, 1x special swab (eNAT) |
| Test duration | 7-14 working days |
Test specifications
| Symptom complex | hematologic |
| Causality | causally |
| Gene | PKLR |
| Mutation | C-T |
| Literature | OMIA:000844-9615 |
Pyruvatkinase-Deficiency (PK) - Pug
The symptoms described in this breed can be found in the text above.
Order details
| Test number | 8015 |
| Sample material | 0.5 ml EDTA blood, 2x cheek swab, 1x special swab (eNAT) |
| Test duration | 7-14 working days |
Test specifications
| Symptom complex | hematologic |
| Causality | causally |
| Gene | PKLR |
| Mutation | T-C |
| Literature | OMIA:000844-9615 |
