Pyruvate dehydrogenase phosphatase 1 deficiency

From Dog

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)[1].

This disease is mainly reported in the Clumber Spaniel and Sussex Spaniel and clinical symptoms are primarily exercise intolerance.

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[2], but affected dogs may have a shortened life span due to heart and lung complications.

References

  1. Cameron JM et al (2009) Pyruvate dehydrogenase phosphatase 1 (PDP1) null mutation produces a lethal infantile phenotype. Hum Genet 125(3):319-326
  2. Cameron JM et al (2007) Identification of a canine model of pyruvate dehydrogenase phosphatase 1 deficiency. Mol Genet Metab 90(1):15-23