A deficiency in the activities of biotin-dependent enzymes (propionyl-CoA carboxylase, methylcrotonyl-CoA carboxylase, and PYRUVATE CARBOXYLASE) due to one of two defects in BIOTIN metabolism. The neonatal form is due to HOLOCARBOXYLASE SYNTHETASE DEFICIENCY. The late-onset form is due to BIOTINIDASE DEFICIENCY.
Also Known As:
Deficiency, Multiple Carboxylase; Carboxylase Deficiency, Combined; Deficiency, Combined Carboxylase; Carboxylase Deficiencies, Combined; Carboxylase Deficiencies, Multiple; Combined Carboxylase Deficiencies; Deficiencies, Combined Carboxylase; Deficiencies, Multiple Carboxylase; Multiple Carboxylase Deficiencies; Carboxylase Deficiency, Multiple; Combined Carboxylase Deficiency