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3-Hydroxy-3-Methylglutaryl-CoA Synthase 2 Deficiency MeSH Supplementary Concept Data 2022


MeSH Supplementary
3-Hydroxy-3-Methylglutaryl-CoA Synthase 2 Deficiency
Unique ID
C567784
RDF Unique Identifier
http://id.nlm.nih.gov/mesh/C567784
Entry Term(s)
HMGCS2 Deficiency
Mitochondrial HMG-CoA Synthase Deficiency
Registry Number
0
Heading Mapped to
Hydroxymethylglutaryl-CoA Synthase / *deficiency
*Hypoglycemia
*Metabolism, Inborn Errors
*Mitochondrial Diseases
Frequency
4
Note
mutation in HMGCS2
Date of Entry
2012/11/05
Revision Date
2013/11/06
3-Hydroxy-3-Methylglutaryl-CoA Synthase 2 Deficiency Preferred
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