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 trans-3MGC CoA. Consequently, this metabolite is...

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Detalles Bibliográficos
Autores principales: Jones, Dylan E., Jennings, Elizabeth A., Ryan, Robert O.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2022
Materias:
Review
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9146172/
https://www.ncbi.nlm.nih.gov/pubmed/35629880
http://dx.doi.org/10.3390/metabo12050377

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9146172/
https://www.ncbi.nlm.nih.gov/pubmed/35629880
http://dx.doi.org/10.3390/metabo12050377

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