Difference between revisions of "Pyruvate dehydrogenase phosphatase 1 deficiency"

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Pyruvate dehydrogenase phosphatase 1 deficiency is a [[genetic diseases of dogs|genetic]] storage disease characterized by dramatic exercise intolerance and post exercise collapse.
Pyruvate dehydrogenase phosphatase 1 deficiency is a [[genetic diseases of dogs]] genetic]] storage disease characterized by dramatic exercise intolerance and post exercise collapse.
 
  
This disease is mainly reported in the [[Clumber Spaniel]] and [[Sussex Spaniel]].
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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)<ref>Cameron JM ''et al'' (2009) Pyruvate dehydrogenase phosphatase 1 (PDP1) null mutation produces a lethal infantile phenotype. ''Hum Genet'' '''125(3)''':319-326</ref>.
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This disease is mainly reported in the [[Clumber Spaniel]] and [[Sussex Spaniel]] and clinical symptoms are primarily exercise intolerance.
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Diagnosis is by PCR assays.
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A differential diagnosis would include [[exercise-induced collapse]].
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Dietary restriction may be beneficial in some dogs, as well as limit exercise to lash walks<ref>Cameron JM ''et al'' (2007) Identification of a canine model of pyruvate dehydrogenase phosphatase 1 deficiency. ''Mol Genet Metab'' '''90(1)''':15-23</ref>, but affected dogs may have a shortened life span due to heart and lung complications.
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==References==
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<References/>

Latest revision as of 06:31, 21 February 2013

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