Disease overview

Pyruvate Dehydrogenase Deficiency is a metabolic condition that affects the breakdown of glucose for energy. It is characterized by a buildup of lactic acid in the body, which is formed during exercise.

Gene name

PDP1

Inheritance

Autosomal recessive

Signs and symptoms

Affected dogs will show extreme exercise intolerance, leading to collapse.

How is it diagnosed

A veterinarian will review health history, conduct a thorough exam, and note any clinical signs. Laboratory testing may help to diagnosis if lactate is high in the body. Genetic testing assists veterinarians with diagnosis and helps breeders identify affected and carrier dogs.

Breeds at higher risk

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Citations

Cameron JM, Maj MC, Levandovskiy V, MacKay N, Shelton GD, Robinson BH. Identification of a canine model of pyruvate dehydrogenase phosphatase 1 deficiency. Mol Genet Metab. 2007 Jan;90(1):15-23. doi: 10.1016/j.ymgme.2006.09.011. Epub 2006 Nov 13. PMID: 17095275.

Disclaimer

Disease diagnosis and treatment should always be performed by a veterinarian. The following information is for educational purposes only.