Case Reports
doi: 10.1007/BF01969575.
Thiamine dependency in a patient with congenital lacticacidaemia due to pyruvate dehydrogenase deficiency
- PMID: 413346
- DOI: 10.1007/BF01969575
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Case Reports
Thiamine dependency in a patient with congenital lacticacidaemia due to pyruvate dehydrogenase deficiency
Agents Actions.
1977 Sep.
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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