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Pyruvate Dehydrogenase (PDH) Deficiency is a metabolic disorder that causes fatigue and exercise intolerance.
Working days 10
Specifiche
| Breeds | |
|---|---|
| Gene | |
| Organ | |
| specimen | Swab, Blood EDTA, Blood Heparin, Semen, Tissue |
| Mode of Inheritance | |
| Chromosome | |
| Year Published |
Informazioni generali
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.
Caratteristiche cliniche
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.
Informazioni aggiuntive
Riferimenti
Pubmed ID: 17095275
Omia ID: 1406