Multiple Carboxylase Deficiency
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.
Year introduced: 1987
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Tree Number(s): C16.320.565.100.620, C16.320.565.202.720, C18.452.648.100.620, C18.452.648.202.720
MeSH Unique ID: D009100
Entry Terms:
- Carboxylase Deficiencies, Multiple
- Deficiencies, Multiple Carboxylase
- Multiple Carboxylase Deficiencies
- Carboxylase Deficiency, Combined
- Carboxylase Deficiencies, Combined
- Combined Carboxylase Deficiencies
- Deficiencies, Combined Carboxylase
- Deficiency, Combined Carboxylase
- Combined Carboxylase Deficiency
- Deficiency, Multiple Carboxylase
- Carboxylase Deficiency, Multiple
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