Systemic primary carnitine deficiency (CDSP), also called deficiency of plasma-membrane carnitine transporter, carnitine transporter deficiency or carnitine uptake defect (CUD), is an autosomal recessive metabolic disorder that prevents the body from using fats for energy, particularly during periods without food. Carnitine, a natural substance acquired mostly through diet, is used by cells to process fats and produce energy. People with primary carnitine deficiency have defective proteins called carnitine transporters, which bring carnitine into cells and prevent its escape from the body.Read more on Wikipedia
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