Effects of thiamine in a patient with a variant form of branched-chian ketoaciduria.
A boy with the intermediate variant of branched-chain ketoaciduria was studied. Treatment with an amino acid mixture was discontinued at the age of 7.5 years. Reintroduction of normal protein-containing foods precipitated the biochemical abnormalities, characteristic of MSUD, which were relieved by 10 mg thiamine/day. Adaptation to this regiment developed and thiamine intake was increased to 100 mg/day, later to 1 000 mg/day. The patient developed well and had no attacks of ketoacidosis. 1-14C-leucine degradation in intact fibroblasts was 15% of controls and did not increase upon addition of thiamine to the incubation medium.
D000596:Amino Acids / Q000097:blood; D002262:Carboxy-Lyases / Q000378:metabolism; D002648:Child; D002849:Chromatography, Gas; D005347:Fibroblasts / Q000201:enzymology; D006801:Humans; D007651:Keto Acids / Q000652:urine*; D008297:Male; D008375:Maple Syrup Urine Disease / Q000188:drug therapy*; D013831:Thiamine / Q000008:administration & dosage / Q000627:therapeutic use*
D000596:Amino Acids; D007651:Keto Acids; D002262:Carboxy-Lyases; D013831:Thiamine