Pyruvate Dehydrogenase Phosphatase Deficiency (PDP1)
Kodas: H740
Short description
Pyruvate Dehydrogenase (PDH) Deficiency is a metabolic disorder that causes fatigue and exercise intolerance.
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.
Specifications
| Breeds | |
|---|---|
| Gene | PDP1 |
| Chromosome | 29 |
| Mutation | c.754C>T |
| Organ | Muscles |
| Specimen | Swab, Blood EDTA, Blood Heparin, Semen, Tissue |
| Mode of Inheritance | Autosomal Recessive |
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.
References
Pubmed ID: 17095275
Year published: 2007
Omia ID: 1406
Omia variant ID:
Turnaround information
- 10 working days