Article
Pyruvate dehydrogenase deficiency. Clinical presentation and molecular genetic characterization of five new patients.
Brain : a journal of neurology - 1 Jun 1994
Matthews P M, Brown R M, Otero L J, Marchington D R, LeGris M, Howes R, Meadows L S, Shevell M, Scriver C R, Brown G K
Abstract excerpt
Fibroblast cultures from five patients with early onset severe encephalopathy and lactic acidosis were studied for evidence of pyruvate dehydrogenase (PDH) deficiency. Three males had significantly reduced activity (0.29-0.45 nmol/mg protein/min versus normal controls 0.7-1.1 nmol/mg protein/min); two females had PDH activity within the normal range. However, as the majority of cases of PDH deficiency result from...
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