EFFECTS OF THIAMINE IN A PATIENT WITH A VARIANT FORM OF BRANCHED‐CHAIN KETOACIDURIA
- 1 May 1978
- journal article
- research article
- Published by Wiley in Acta Paediatrica
- Vol. 67 (3) , 367-372
- https://doi.org/10.1111/j.1651-2227.1978.tb16336.x
Abstract
A boy with the intermediate variant of branched-chain ketoaciduira was studied. Treatment with an amino acid mixture was discontined at the age of 7.5 yr. Reintroduction of normal protein-containing foods precipitated the biochemical abnormalities, characteristic of MSUD [maple syrup urine disease], which were relieved by 10 mg thiamine/day. Adaptation to this regimen developed and thiamine intake was increased to 100 mg/day, later to 1000 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.Keywords
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