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Holocarboxylase Synthetase Deficiency MeSH Descriptor Data 2022


MeSH Heading
Holocarboxylase Synthetase Deficiency
Tree Number(s)
C16.320.565.100.620.380
C16.320.565.202.720.380
C18.452.648.100.620.380
C18.452.648.202.720.380
Unique ID
D028922
RDF Unique Identifier
http://id.nlm.nih.gov/mesh/D028922
Scope Note
The neonatal form of MULTIPLE CARBOXYLASE DEFICIENCY that is caused by a defect or deficiency in holocarboxylase synthetase. HLCS is the enzyme that covalently links biotin to the biotin dependent carboxylases (propionyl-CoA-carboxylase, pyruvate carboxylase, and beta-methylcrotonyl-CoA carboxylase).
Entry Version
HOLOCARBOXYLASE SYNTHETASE DEFIC
Entry Term(s)
Carboxylase Deficiency, Multiple, Neonatal Form
Deficiency, Holocarboxylase Synthetase
Deficiency, Multiple Carboxylase, Neonatal Form
Early-Onset Biotin-Responsive Multiple Carboxylase Deficiency
Early-Onset Combined Carboxylase Deficiency
HLCS Deficiency
Infantile Multiple Carboxylase Deficiency
Multiple Carboxylase Deficiency, Early Onset
Multiple Carboxylase Deficiency, Neonatal Form
See Also
Biotin
Public MeSH Note
2002
History Note
2002
Date Established
2002/01/01
Date of Entry
2001/07/25
Revision Date
2013/07/08
Holocarboxylase Synthetase Deficiency Preferred
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