Thiamine dependency in a patient with congenital lacticacidaemia due to pyruvate dehydrogenase deficiency.
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.
D000409:Alanine; D005347:Fibroblasts / Q000378:metabolism; D005632:Fructose; D005934:Glucagon; D005947:Glucose; D006801:Humans; D007223:Infant; D007773:Lactates / Q000097:blood*; D008297:Male; D015325:Pyruvate Dehydrogenase Complex Deficiency Disease; D013831:Thiamine / Q000627:therapeutic use*
D007773:Lactates; D005632:Fructose; D005934:Glucagon; D005947:Glucose; D000409:Alanine; D013831:Thiamine