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.
Synonyms: Carboxylase Deficiencies, Combined, Carboxylase Deficiencies, Multiple, Combined Carboxylase Deficiencies, Multiple Carboxylase Deficiencies, Multiple Carboxylase Deficiency, Carboxylase Deficiency, Combined, Deficiency, Multiple Carboxylase, Deficiency, Combined Carboxylase, Deficiencies, Multiple Carboxylase, Deficiencies, Combined Carboxylase, Combined Carboxylase Deficiency, Carboxylase Deficiency, Multiple
Instance information
87
D009100