Heptanoic and medium branched-chain fatty acids as anaplerotic treatment for medium chain acyl-CoA dehydrogenase deficiency.
ACADs, acyl-CoA dehydrogenases
Anaplerosis
Dojolvi(TM)
Fatty acid oxidation disorders
Heptanoic acid
Lysine succinylation
MCAD deficiency
Medium branched-chain fatty acids
Triheptanoin
Journal
Molecular genetics and metabolism
ISSN: 1096-7206
Titre abrégé: Mol Genet Metab
Pays: United States
ID NLM: 9805456
Informations de publication
Date de publication:
11 2023
11 2023
Historique:
received:
26
04
2023
revised:
22
08
2023
accepted:
24
08
2023
medline:
14
11
2023
pubmed:
4
9
2023
entrez:
3
9
2023
Statut:
ppublish
Résumé
Triheptanoin (triheptanoylglycerol) has shown value as anaplerotic therapy for patients with long chain fatty acid oxidation disorders but is contraindicated in medium-chain acyl-CoA dehydrogenase (MCAD) deficiency. In search for anaplerotic therapy for patients with MCAD deficiency, fibroblasts from three patients homozygous for the most common mutation, ACADM
Identifiants
pubmed: 37660571
pii: S1096-7192(23)00319-0
doi: 10.1016/j.ymgme.2023.107689
pii:
doi:
Substances chimiques
Acyl-CoA Dehydrogenase
EC 1.3.8.7
Fatty Acids
0
Acyl-CoA Dehydrogenases
EC 1.3.-
Types de publication
Journal Article
Research Support, N.I.H., Extramural
Research Support, Non-U.S. Gov't
Langues
eng
Sous-ensembles de citation
IM
Pagination
107689Informations de copyright
Copyright © 2023 Elsevier Inc. All rights reserved.
Déclaration de conflit d'intérêts
Declaration of Competing Interest Al-Walid Mohsen, the corresponding author, has a patent application, US 2021/0322357 A1, submitted to the US patent office pertaining compounds mentioned in this manuscript. Anuradha Karunanidhi, Shakuntala Basu, Xue-Jun Zhao, Olivia D'Annibale, Clinton Van't Land, Jerry Vockley, all have no conflict of interest.