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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)

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The transacetylase function transfers acetate and short-chain fatty acids from PAF to ether- and ester-linked lysophospholipids