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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

L-carnitine also comes in several distinct forms, each with slightly different affinities for various tissues

Secondary carnitine deficiency may also arise from other deleterious conditions such as hemodialysis or renal tubular dysfunction, which result in excessive loss of carnitine in urine

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