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Case Reports
. 1977 Sep;7(3):405-10.
doi: 10.1007/BF01969575.

Thiamine dependency in a patient with congenital lacticacidaemia due to pyruvate dehydrogenase deficiency

H Wick, K Schweizer, R Baumgartner
Case Reports

Thiamine dependency in a patient with congenital lacticacidaemia due to pyruvate dehydrogenase deficiency

H Wick et al. 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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References

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