Pyruvate dehydrogenase deficiency presenting as dystonia in childhood.

[pyruvate dehydrogenase deficiency]

Two individuals with pyruvate dehydrogenase (PDH ) deficiency due to missense mutations in the gene for the E 1 alpha subunit (PDHA 1 ) presented during childhood with dystonia . The first patient , a male , presented at age 4 years with dystonia affecting the lower limbs , which responded to treatment with combined carbidopa and levodopa . The second patient , a female , was first investigated at age 6 years because of a dystonic gait disorder . In both patients , the main clue to the biochemical diagnosis was a raised concentration of lactate in the cerebrospinal fluid . PDH activity was significantly reduced in cultured fibroblasts in both cases . Dystonia is a previously unrecognized major manifestation of PDH deficiency and is of particular interest as the mutations in the PDHA 1 gene in these patients have both been identified previously in individuals with typical presentations of the condition .

Diseases
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Diseases presenting "mutations in the pdha1 gene in these patients" symptom

pyruvate dehydrogenase deficiency

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