Multiple Carboxylase Deficiency (definition)

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Multiple Carboxylase Deficiency

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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.

See Also Biotin
Examples Biotinidase Deficiency; Holocarboxylase Synthetase Deficiency

Other names Combined Carboxylase Deficiency; Carboxylase Deficiency, Multiple; Multiple Carboxylase Deficiencies; Deficiencies, Multiple Carboxylase; Deficiencies, Combined Carboxylase; Combined Carboxylase Deficiencies; Carboxylase Deficiencies, Multiple; Carboxylase Deficiencies, Combined; Deficiency, Multiple Carboxylase; Deficiency, Combined Carboxylase; Carboxylase Deficiency, Combined

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Sources: NLM Medical Subject Headings, NIH UMLS, Drugs@FDA, FDA AERS original data copyright United States Government. No endorsement implied. Last modified 6/6/2012
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