Diversion of Acetyl CoA to 3-Methylglutaconic Acid Caused by Discrete Inborn Errors of Metabolism.
3-methylglutaconic acid
acetyl CoA
inborn errors of metabolism
leucine
mitochondria
organic aciduria
sirtuin 4
Journal
Metabolites
ISSN: 2218-1989
Titre abrégé: Metabolites
Pays: Switzerland
ID NLM: 101578790
Informations de publication
Date de publication:
21 Apr 2022
21 Apr 2022
Historique:
received:
05
04
2022
revised:
15
04
2022
accepted:
18
04
2022
entrez:
28
5
2022
pubmed:
29
5
2022
medline:
29
5
2022
Statut:
epublish
Résumé
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
Identifiants
pubmed: 35629880
pii: metabo12050377
doi: 10.3390/metabo12050377
pmc: PMC9146172
pii:
doi:
Types de publication
Journal Article
Review
Langues
eng
Subventions
Organisme : NIH HHS
ID : R37 HL64159
Pays : United States
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