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Biotinidase Deficiency MeSH Descriptor Data 2024


MeSH Heading
Biotinidase Deficiency
Tree Number(s)
C16.320.565.100.620.100
C16.320.565.202.720.100
C18.452.648.100.620.100
C18.452.648.202.720.100
Unique ID
D028921
RDF Unique Identifier
http://id.nlm.nih.gov/mesh/D028921
Scope Note
The late onset form of MULTIPLE CARBOXYLASE DEFICIENCY (deficiency of the activities of biotin-dependent enzymes propionyl-CoA carboxylase, methylcrotonyl-CoA carboxylase, and PYRUVATE CARBOXYLASE) due to a defect or deficiency in biotinidase which is essential for recycling BIOTIN.
Entry Version
BIOTINIDASE DEFIC
Entry Term(s)
BTD Deficiency
Carboxylase Deficiency, Multiple, Late-Onset
Deficiency, Biotinidase
Deficiency, Multiple Carboxylase, Late-Onset
Late-Onset Biotin-Responsive Multiple Carboxylase Deficiency
Late-Onset Multiple Carboxylase Deficiency
Multiple Carboxylase Deficiency, Late-Onset
Previous Indexing
Amidohydrolases/deficiency (1983-2001)
See Also
Biotin
Public MeSH Note
2002
History Note
2002
Date Established
2002/01/01
Date of Entry
2001/08/03
Revision Date
2013/07/08
Biotinidase Deficiency Preferred
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