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Congenital Disorder

Multiple Carboxylase Deficiency

AMW:DIS:160076

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.

Pathology clinical
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Multiple Carboxylase Deficiency has parent Amino Acid Metabolism, Inborn Errors
Multiple Carboxylase Deficiency has parent Carbohydrate Metabolism, Inborn Errors
Biotinidase Deficiency has parent Multiple Carboxylase Deficiency
Holocarboxylase Synthetase Deficiency has parent Multiple Carboxylase Deficiency

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