Multiple Carboxylase Deficiency

**Definition:** 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.

**Tree numbers:** - C16.320.565.100.620 - C16.320.565.202.720 - C18.452.648.100.620 - C18.452.648.202.720

**Synonyms:** - Carboxylase Deficiency, Combined - Deficiency, Combined Carboxylase - Combined Carboxylase Deficiency - Deficiency, Multiple Carboxylase - Carboxylase Deficiency, Multiple