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Biotin‐responsive multiple carboxylase deficiency in an 8‐year‐old boy with normal serum biotinidase and fibroblast holocarboxylase‐synthetase activities
Author(s) -
Holme E.,
Jacobson CE.,
Kristiansson B.
Publication year - 1988
Publication title -
journal of inherited metabolic disease
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.462
H-Index - 102
eISSN - 1573-2665
pISSN - 0141-8955
DOI - 10.1007/bf01800369
Subject(s) - biotinidase deficiency , biotin , endocrinology , pyruvate carboxylase , medicine , fibroblast , biology , enzyme , chemistry , biochemistry , in vitro
Summary An 8‐year‐old boy with late onset multiple carboxylase deficiency is described. Biotinidase deficiency and holocarboxylase‐synthetase deficiency have been excluded. A very slow biochemical response to biotin was found. The decrease in urinary organic acid excretion followed first‐order kinetics with a half‐life of about 50 days. The initially low carboxylase activities in thrombocytes were increased but not normalized after 3 months of treatment.