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BOX 74-1 Causes of Carnitine Deficiency Dietary deficiency of the precursor amino acids lysine and methionine Deficiency of any cofactor (e.g., iron, ascorbic acid, pyridoxine, niacin) required by the enzymes of the lysine to carnitine pathway Genetic defect of carnitine biosynthesis Defective intestinal absorption of carnitine Liver or kidney dysfunction that impairs carnitine synthesis Increased metabolic losses of carnitine due to catabolism, impaired tubular resorption, or genetic defect Defective transport of carnitine from tissues of synthesis to tissues where it is maximally used Increased carnitine requirement due to a high-fat diet, drugs (e.g., valproic acid), metabolic stress, or disease Carnitine deficiency states have been classified into two major groups: Diagnosis of systemic carnitine deficiency can be made using serum or 24-hour urine samples

PMID: 42218973 Mol Brain 2024 Nov 29;17(1):91

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Wu L, Huang X, Ouyang Q, Liu W, Liu S, Huang Y