Biotinidase Deficiency
Synonyms
BTD Deficiencies
BTD Deficiency
Biotinidase Deficiencies
Carboxylase Deficiency, Multiple, Late-Onset
Deficiencies, BTD
Deficiencies, Biotinidase
Deficiency, BTD
Deficiency, Biotinidase
Deficiency, Multiple Carboxylase, Late-Onset
Late Onset Biotin Responsive Multiple Carboxylase Deficiency
Late Onset Multiple Carboxylase Deficiency
Late-Onset Biotin-Responsive Multiple Carboxylase Deficiency
Late-Onset Multiple Carboxylase Deficiency
Multiple Carboxylase Deficiency, Late Onset
Multiple Carboxylase Deficiency, Late-Onset
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.
See Also