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carnitine deficiency

 

Definition: a condition associated with many disorders of fatty acid oxidation. Fatty acids are linked to carnitine as they are transported across the inner mitochondrial membrane; errors in this process lead to problems with energy production; patients may experience episodes of hypoglycemia or metabolic acidosis and may have encephalopathy, cardiomyopathy or skeletal muscle weakness.

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© Copyright 2018 Wolters Kluwer. All Rights Reserved. Review date: Sep 19, 2016.

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