Rare Diseases Symptoms Automatic Extraction

Late-onset presentation of pyruvate dehydrogenase deficiency.

[pyruvate dehydrogenase deficiency]

Two brothers presented in their mid-forties with movement disorders including atypical parkinsonism, choreiform movements, stereotypies, ataxia and dysarthria. Both brothers showed putaminal lucencies on imaging and, in the proband, a deficiency of the pyruvate dehydrogenase complex (PDHC) was found on skin fibroblast assay.

Diseases presenting "skin fibroblast assay" symptom

  • pyruvate dehydrogenase deficiency

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