€57,48 €47,50 excl. VAT
Pyruvate Dehydrogenase (PDH) Deficiency is a metabolic disorder that causes fatigue and exercise intolerance.
10 working days
From €5,95 shipping and administration per order (incl. VAT)
Specifications
| Breeds | |
|---|---|
| Gene | |
| Organ | |
| Specimen | Swab, Blood EDTA, Blood Heparin, Semen, Tissue |
| Mode of Inheritance | |
| Chromosome | |
| Year Published |
General information
Pyruvate Dehydrogenase (PDH) Deficiency is a metabolic disorder that causes fatigue and exercise intolerance. This variant of the disorder, found in the Clumber Spaniel and Sussex Spaniel, is caused by a recessive mutation to the gene PDP1.
Clinical features
Affected dogs present at approximately 1 year of age with exercise intolerance, only being able to exert themselves for a small amount of time before needing to rest, possibly even experiencing post-exercise collapse. Additionally, affected dogs may develop heart defects such as cardiomyopathy.
Additional information
References
Pubmed ID: 17095275
Omia ID: 1406