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Multiple Carboxylase Deficiency MeSH Descriptor Data 2022


MeSH Heading
Multiple Carboxylase Deficiency
Tree Number(s)
C16.320.565.100.620
C16.320.565.202.720
C18.452.648.100.620
C18.452.648.202.720
Unique ID
D009100
RDF Unique Identifier
http://id.nlm.nih.gov/mesh/D009100
Scope Note
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.
Entry Version
MULTIPLE CARBOXYLASE DEFIC
Entry Term(s)
Carboxylase Deficiency, Combined
Carboxylase Deficiency, Multiple
Combined Carboxylase Deficiency
Deficiency, Combined Carboxylase
Deficiency, Multiple Carboxylase
Previous Indexing
specific enzyme (1966-1974)
specific enzyme/deficiency (1975-1986)
See Also
Biotin
Public MeSH Note
87
History Note
87
Date Established
1987/01/01
Date of Entry
1986/04/18
Revision Date
2006/07/05
Multiple Carboxylase Deficiency Preferred
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