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Pyruvate Dehydrogenase Phosphatase Deficiency (PDP1)

Code: H740

74,72 €

Sample details

One test – one sample. Animal and owner details are optional.

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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

Clumber Spaniel, Sussex Spaniel
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

  • 15 working days