Genetic Test
The PDP1 (Pyruvate Dehydrogenase Phosphatase Catalytic Subunit 1) gene encodes a protein involved in the metabolic processing of pyruvate within the mitochondria of skeletal muscle and liver cells.
This enzyme plays a key role in regulating the pyruvate dehydrogenase complex, which is essential for energy production.
Mutations in the PDP1 gene are associated with pyruvate dehydrogenase deficiency, a metabolic disorder that impairs normal cellular energy metabolism.
This genetic test targets a specific PDP1 mutation linked to pyruvate dehydrogenase deficiency.
Disease Description
Pyruvate dehydrogenase deficiency is a congenital metabolic disorder caused by genetic abnormalities in enzymes involved in pyruvate metabolism and fatty acid oxidation.
Affected animals exhibit elevated plasma levels of lactate and pyruvate during rest following exercise, reflecting impaired energy metabolism.
This metabolic imbalance leads to severe exhaustion and exercise intolerance, rendering affected dogs unable to perform normal physical activity.
