Other terms
Carboxylase Deficiencies, Multiple,Deficiencies, Multiple Carboxylase,Multiple Carboxylase Deficiencies,Deficiency, Combined Carboxylase,Deficiency, Multiple Carboxylase,Carboxylase Deficiency, Multiple,Carboxylase Deficiency, Combined,Carboxylase Deficiencies, Combined,Combined Carboxylase Deficiencies,Deficiencies, Combined Carboxylase,Combined Carboxylase Deficiency
Description
Multiple Carboxylase Deficiency: 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.
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