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Description
(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
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Carnitine levels may be deficient in the blood, in muscle (where it is primarily stored), or in both
