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EFFECTS OF THIAMINE IN A PATIENT WITH A VARIANT FORM OF BRANCHED‐CHAIN KETOACIDURIA
Author(s) -
DURAN M.,
TIELENS A. G. M.,
WADMAN S. K.,
STIGTER J. C. M.,
KLEIJER W. J.
Publication year - 1978
Publication title -
acta pædiatrica
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.772
H-Index - 115
eISSN - 1651-2227
pISSN - 0803-5253
DOI - 10.1111/j.1651-2227.1978.tb16336.x
Subject(s) - thiamine , medicine , incubation , thiamine deficiency , leucine , regimen , endocrinology , biochemistry , amino acid , biology
. 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 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‐ 14 C‐leucine degradation in intact fibroblasts was 15% of controls and did not increase upon addition of thiamine to the incubation medium.