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1,2,9 Enzyme deficiencies LC-FAOD is caused by specific enzyme deficiencies in the carnitine shuttle system or the -oxidation spiral 4,12 CPT I CACT CPT II VLCAD TFP LCHAD Compromised LCFA metabolism Dysfunctional conversion of LCFAs into acetyl-CoAs results in 1,2,7,14 Lower ATP production Impaired ketogenesis TCA cycle imbalance Enzyme deficiencies can disrupt the anaplerosis-cataplerosis balance, leading to 1,10,15 : Accumulation of toxic metabolites Lack of replenishing substrates in the TCA intermediate pools Impaired energy production Incomplete TCA cycle processing may impair 1,2,7,9,16 : ATP production Gluconeogenesis References 1

[DOI] [PMC free article] [PubMed] [Google Scholar] 197.Kwon C-Y, Cho I-H, Park KS

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