Multiple Carboxylase Deficiency
Synonyms
Carboxylase Deficiencies, Combined
Carboxylase Deficiencies, Multiple
Carboxylase Deficiency, Combined
Carboxylase Deficiency, Multiple
Combined Carboxylase Deficiencies
Combined Carboxylase Deficiency
Deficiencies, Combined Carboxylase
Deficiencies, Multiple Carboxylase
Deficiency, Combined Carboxylase
Deficiency, Multiple Carboxylase
Multiple Carboxylase Deficiencies
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.
See Also