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Beta-Hydroxyisobutyryl CoA Deacylase Deficiency MeSH Supplementary Concept Data 2024


MeSH Supplementary
Beta-Hydroxyisobutyryl CoA Deacylase Deficiency
Unique ID
C562803
RDF Unique Identifier
http://id.nlm.nih.gov/mesh/C562803
Entry Term(s)
3-Hydroxyisobutyryl-CoA Hydrolase Deficiency
HIBCH Deficiency
Methacrylic Acid Toxicity
Methacrylic Aciduria
Valine Metabolic Defect
Registry Number
0
Heading Mapped to
*Abnormalities, Multiple
*Amino Acid Metabolism, Inborn Errors
Thiolester Hydrolases / *deficiency
Frequency
15
Note
mutation in 3-hydroxyisobutyryl-CoA hydrolase (HIBCH)
Date of Entry
2012/11/05
Revision Date
2013/11/06
Beta-Hydroxyisobutyryl CoA Deacylase Deficiency Preferred
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