En defekt i verkan av biotinberoende enzym (propionyl CoA-karboxylas, metylkrotonyl CoA-karboxylas och pyruvatkarboxylas) till följd av någondera av två brister i biotinomsättningen. Den form som uppträder hos nyfödda beror på brist på holokarboxylassyntetas, medan den som uppträder senare beror på biotinidasbrist.
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.
Inga svenska synonymer finns.
Carboxylase Deficiencies, Multiple — Deficiencies, Multiple Carboxylase — Multiple Carboxylase Deficiencies — Deficiency, Combined Carboxylase — Deficiency, Multiple Carboxylase — Carboxylase Deficiency, Multiple — Carboxylase Deficiency, Combined — Carboxylase Deficiencies, Combined — Combined Carboxylase Deficiencies — Deficiencies, Combined Carboxylase — Combined Carboxylase Deficiency