Rare Diseases Symptoms Automatic Extraction

Pyruvate dehydrogenase deficiency in a Sussex spaniel.

[pyruvate dehydrogenase deficiency]

A two-year-old, intact female Sussex spaniel was presented with signs of exercise intolerance. Pre- and post-exercise serum lactate and pyruvate concentrations and urinary organic acid screening supported a diagnosis of pyruvate dehydrogenase deficiency, as previously reported in this breed. Dietary therapy was initiated for six months, during which time there was no reported clinical deterioration. A full neurological examination and repeat evaluation of lactate and pyruvate concentrations before and after exercise was conducted one year after diagnosis, at which time the patient had been without dietary modification for six months and had developed more severe exercise intolerance along with evidence of central nervous system dysfunction.

Diseases presenting "exercise intolerance" symptom

  • adrenomyeloneuropathy
  • pyruvate dehydrogenase deficiency

This symptom has already been validated