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