Pyruvate dehydrogenase phosphatase 1 deficiency
Pyruvate dehydrogenase phosphatase 1 deficiency is a genetic storage disease characterized by dramatic exercise intolerance and post exercise collapse.
Pyruvate Dehydrogenase Phosphatase 1 is a global mitochondrial enzyme which reverses the effects of pyruvate dehydrogenase kinase upon pyruvate dehydrogenase, affecting glycolysis (phosphorylase and phosphofructokinase deficiency) and fatty acid oxidation (palmitoyl carnitine transferase deficiency).
Diagnosis is by PCR assays.
A differential diagnosis would include exercise-induced collapse.
Dietary restriction may be beneficial in some dogs, as well as limit exercise to lash walks, but affected dogs may have a shortened life span due to heart and lung complications.
- Cameron JM et al (2009) Pyruvate dehydrogenase phosphatase 1 (PDP1) null mutation produces a lethal infantile phenotype. Hum Genet 125(3):319-326
- Cameron JM et al (2007) Identification of a canine model of pyruvate dehydrogenase phosphatase 1 deficiency. Mol Genet Metab 90(1):15-23