Medium branched-chain fatty acids can improve metabolite profiles in fibroblasts derived from patients with carnitine palmitoyltransferase 2 (CPT 2) deficiency, a type of long-chain fatty acid oxidation disorder (LCFAOD), according to a study presented at the 2023 lecture series of the International Network for Fatty Acid Oxidation Research and Management (INFORM) as well as the 2022 INFORM meeting that was held in Freiburg, Germany on August 28-29. 

Since they provide 2 molecules of propionyl-CoAs instead of 1 as generated from heptanoic acid, these medium branched-chain fatty acids could have possible advantages to treat LCFAOD, the researchers noted.

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“Following in vivo studies, testing their triglyceride version in clinical trials will be feasible in the near future,” said Bianca Seminotti, MSc, PhD, from the University of Pittsburgh in Pennsylvania, who presented the study, the aim of which was to develop more effective treatments to remedy energy deficiency in LCFAOD.

Dr. Seminotti and colleagues treated 2 CPT 2 deficient fibroblast cell lines with either heptanoic acid or 3 different medium branched-chain fatty acids, namely dMC7, AdMC7, and dMC9.

They found that lysine succinylation, which was reduced in CPT 2 deficient fibroblasts, was increased following treatment with all 3-medium branched-chain fatty acids.

The mitochondrial bioenergetics of the cells also improved following treatment, as shown by an increase in their oxygen consumption. 

Dr. Seminotti concluded that the triglyceride version of these medium-branched-chain fatty acids could remedy symptoms of LCFAOD, such as rhabdomyolysis. 

Previous research has shown that dMC7, AdMC7, and dMC9 improved the profile of tricarboxylic acid cycle intermediates in fibroblasts derived from patients with LCFAOD, including CPT 2 deficiency, the researchers.

The role of CPT 2 is to remove the carnitine molecule that was added to long-chain fatty acids by CPT1, so that they could be transported inside the mitochondria. Once the carnitine molecule is removed, long-chain fatty acids can be metabolized, they added.


Seminotti B, Karunanidhi A, Vockley J, Mohsen AW. Restoring succinyllysine antigenic signal and improving O2 consumption of CPT II deficient cells treated with anaplerotic compounds. Poster presented at the International Network for Fatty Acid Oxidation Research and Management (INFORM) 2023 lecture series: February 20, 2023; Virtual.