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Biotinidase Deficiency

The late onset form of MULTIPLE CARBOXYLASE DEFICIENCY (deficiency of the activities of biotin-dependent enzymes propionyl-CoA carboxylase, methylcrotonyl-CoA carboxylase, and PYRUVATE CARBOXYLASE) due to a defect or deficiency in biotinidase which is essential for recycling BIOTIN.

Year introduced: 2002

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Tree Number(s): C16.320.565.100.620.100, C16.320.565.202.720.100, C18.452.648.100.620.100, C18.452.648.202.720.100

MeSH Unique ID: D028921

Entry Terms:

  • Biotinidase Deficiencies
  • Deficiencies, Biotinidase
  • Deficiency, Biotinidase
  • Deficiency, Multiple Carboxylase, Late-Onset
  • Late-Onset Multiple Carboxylase Deficiency
  • Late Onset Multiple Carboxylase Deficiency
  • Multiple Carboxylase Deficiency, Late-Onset
  • Multiple Carboxylase Deficiency, Late Onset
  • BTD Deficiency
  • BTD Deficiencies
  • Deficiencies, BTD
  • Deficiency, BTD
  • Carboxylase Deficiency, Multiple, Late-Onset
  • Late-Onset Biotin-Responsive Multiple Carboxylase Deficiency
  • Late Onset Biotin Responsive Multiple Carboxylase Deficiency

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