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Biotin-responsive multiple carboxylase deficiency in an 8-year-old boy with normal serum biotinidase and fibroblast holocarboxylase-synthetase activities

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Journal of Inherited Metabolic Disease

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.

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Authors and Affiliations

  1. Department of Clinical Chemistry, Gothenburg University, Sahlgren's Hospital, S-413 45, Gothenburg, Sweden

    E. Holme & C-E. Jacobson

  2. Department of Pediatrics, Gothenburg University, East Hospital, S-416 85, Gothenburg, Sweden

    B. Kristiansson

Authors
  1. E. Holme
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  2. C-E. Jacobson
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  3. B. Kristiansson
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Holme, E., Jacobson, CE. & Kristiansson, B. Biotin-responsive multiple carboxylase deficiency in an 8-year-old boy with normal serum biotinidase and fibroblast holocarboxylase-synthetase activities. J Inherit Metab Dis 11, 270–276 (1988). https://doi.org/10.1007/BF01800369

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  • DOI: https://doi.org/10.1007/BF01800369

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