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2-Methylbutyryl-CoA Dehydrogenase Deficiency MeSH Supplementary Concept Data 2024


MeSH Supplementary
2-Methylbutyryl-CoA Dehydrogenase Deficiency
Unique ID
C566487
RDF Unique Identifier
http://id.nlm.nih.gov/mesh/C566487
Entry Term(s)
2-MBCD Deficiency
2-Methylbutyryl Glycinuria
2-Methylbutyryl-Coenzyme A Dehydrogenase Deficiency
2-ethylhydracylic aciduria
Elevated urinary 2-ethylhydracylic acid
Elevated urinary 2-methylbutyrylglycine
SBCADD
Short-Branched-Chain Acyl-CoA Dehydrogenase Deficiency
Registry Number
0
Heading Mapped to
*Amino Acid Metabolism, Inborn Errors
Frequency
4
Note
mutation in ACADSB
Date of Entry
2012/11/05
Revision Date
2021/09/01
2-Methylbutyryl-CoA Dehydrogenase Deficiency Preferred
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