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(Etiology) Carnitine-Acylcarnitine Translocase Deficiency Disorder is caused by mutations in the SLC25A20 gene, which provides instructions for making an enzyme called carnitine-acylcarnitine translocase (CACT), which is essential for fatty acid oxidation (a multistep process that breaks down (metabolizes) fats and converts them into energy) Fatty acid oxidation takes place within mitochondria

Ce processus ncessite galement la prsence de plusieurs vitamines (C, B6, B3), de fer et de plusieurs enzymes

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[DOI] [PubMed] [Google Scholar] 34.Frye R.E., Rossignol D., Casanova M.F., Brown G.L., Martin V., Edelson S., Coben R., Lewine J., Slattery J.C., Lau C., et al