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  • Title: Biotin-responsive multiple carboxylase deficiency in an 8-year-old boy with normal serum biotinidase and fibroblast holocarboxylase-synthetase activities.
    Author: Holme E, Jacobson CE, Kristiansson B.
    Journal: J Inherit Metab Dis; 1988; 11(3):270-6. PubMed ID: 3148068.
    Abstract:
    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.
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