ISSN 2398-2969      

Mitochondrial myopathy

icanis
Contributor(s):

John Houlton

Synonym(s): Pyruvate dehydrogenase phosphatase 1(PDP1 deficiency


Introduction

  • Described in the Clumber and Sussex Spaniel.
  • Seen in puppies.
  • Signs: exercise intolerance and collapse.
  • Treatment: specific therapies are not available but dietary alterations and vitamin supplements may assist.

Pathogenesis

Etiology

  • A null mutation exists in PDP1, the phosphatase enzyme that activates the pyruvate dehydrogenase complex. Homozygous individuals experience severe exercise intolerance due to a metabolic acidosis.

Predisposing factors

General
  • Dogs with PDP1 deficiency are sensitive to carbohydrate in the diet.

Diagnosis

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Treatment

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Prevention

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Outcomes

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Further Reading

Publications

Refereed papers

  • Recent references from PubMed and VetMedResource.
  • Cameron J M et al (2007) Identification of a canine model of pyruvate dehydrogenase phosphatase 1 deficiency. Mol Genet Metab 90 (1), 15-23 PubMed.
  • Shelton G D (2007) What's new in muscle and peripheral nerve diseases? Vet Comp Ortho Tramatol 20 (4), 249-255 PubMed.

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