Multiple Carboxylase Deficiency |
|
| Carboxylase Deficiency, Combined; Deficiency, Combined Carboxylase; Deficiency, Multiple Carboxylase; Carboxylase Deficiencies, Combined; Carboxylase Deficiencies, Multiple; Combined Carboxylase Deficiencies; Deficiencies, Combined Carboxylase | |
| 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. | |