Diversion of Acetyl CoA to 3-Methylglutaconic Acid Caused by Discrete Inborn Errors of Metabolism
A growing number of inborn errors of metabolism (IEM) have been identified that manifest 3-methylglutaconic (3MGC) aciduria as a phenotypic feature. In primary 3MGC aciduria, IEM-dependent deficiencies in leucine pathway enzymes prevent catabolism of <i>trans</i>-3MGC CoA. Consequently,...
| Main Authors: | , , |
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| Format: | Article |
| Jezik: | English |
| Izdano: |
MDPI AG
2022-04-01
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| Serija: | Metabolites |
| Teme: | |
| Online dostop: | https://www.mdpi.com/2218-1989/12/5/377 |