Disorders in the processing of biotin present with deficiencies of the biotin-dependent carboxylases, i.e., multiple carboxylase deficiency. The biochemical and clinical abnormalities reflect those observed in individual, isolated defects of three mitochondrial carboxylases: methylcrotonyl-CoA carboxylase, propionyl-CoA carboxylase, and pyruvate carboxylase. Multiple carboxylase deficiency is caused by defects in holocarboxylase synthetase or in biotinidase. Treatment of biotinidase deficiency with biotin supplementation is highly effective in reversing the abnormalities, and that is usually also the case for the treatment of holocarboxylase deficiency, though there may be some variability of response.


Pyruvate Carboxylase Biotinidase Deficiency Propionic Acidemia Organic Acidemia Holocarboxylase Synthetase 
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© Springer-Verlag Berlin Heidelberg 2014

Authors and Affiliations

  1. 1.Department of PediatricsUCSD School of MedicineLa JollaUSA

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