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.
Synonyms: Biotinidase Deficiencies, Carboxylase Deficiency, Multiple, Late-Onset, Late Onset Biotin Responsive Multiple Carboxylase Deficiency, BTD Deficiencies, Late-Onset Biotin-Responsive Multiple Carboxylase Deficiency, Multiple Carboxylase Deficiency, Late Onset, Deficiency, Multiple Carboxylase, Late-Onset, Late-Onset Multiple Carboxylase Deficiency, Multiple Carboxylase Deficiency, Late-Onset, Late Onset Multiple Carboxylase Deficiency, Deficiency, Biotinidase, Biotinidase Deficiency, Deficiencies, BTD, BTD Deficiency, Deficiency, BTD, Deficiencies, Biotinidase
Instance information
2002
D028921