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Pyruvate Dehydrogenase (PDH) Deficiency is a metabolic disorder that causes fatigue and exercise intolerance.
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Caractéristiques
| Breeds | |
|---|---|
| Gene | |
| Chromosome | 29 |
| Mutation | c.754C>T |
| Mode of Inheritance | Autosomique récessif |
| Organ | |
| Specimen | Écouvillonnage, sanguin EDTA, sanguine hépariné, sperme, tissu |
Informations générales
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.
Caractéristiques cliniques
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
Références
Pubmed ID: 17095275
Year published: 2007
Omia ID: 1406
Omia variant ID: 281