Abstract
A patient with congenital lactic acidosis, muscular hypotonia and severe ataxia is reported. The aetiology of his disease was found to be a deficiency of pyruvate dehydrogenase (E.C. 4.1.1.1.). Thiamine treatment (1.8 g/day) was successful in correcting biochemical and clinical symptoms. The mechanism of its action is probably based on activation of pyruvate dehydrogenase through interference in the physiologic regulation.
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Dedicated to K. Bucher on the occasion of his. 65th birthday.
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Wick, H., Schweizer, K. & Baumgartner, R. Thiamine dependency in a patient with congenital lacticacidaemia due to pyruvate dehydrogenase deficiency. Agents and Actions 7, 405–410 (1977). https://doi.org/10.1007/BF01969575
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DOI: https://doi.org/10.1007/BF01969575