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Multiple Carboxylase Deficiency
Carboxylase Deficiency, Multiple | Combined Carboxylase Deficiency | Carboxylase Deficiency, Combined | Deficiency, Combined Carboxylase | Deficiency, Multiple Carboxylase | Carboxylase Deficiencies, Combined
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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