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Primary systemic carnitine deficiency Primary systemic carnitine deficiency is a rare, autosomal recessive disorder caused by mutations (including deletions) in the SLC22A5 gene coding for carnitine transporter protein OCTN2 (organic cation transporter novel 2) (33)
Their levels can decline with age, weight loss, and hormonal fluctuations, causing skin laxity to become more apparent
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Case Overview Clinical studies and drug labeling from the U.S
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