Mesh term Multiple Carboxylase Deficiency
Browse to parent terms:Amino Acid Metabolism, Inborn Errors
Carbohydrate Metabolism, Inborn Errors
Description
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.Browse to child terms:
Biotinidase Deficiency
Holocarboxylase Synthetase Deficiency
Search for this term in our Faculty Database
View this term at the NCBI website
