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The most common (60%) pathogenic variant in the CPT2 gene observed in patients with the myopathic form of the disease is where the Ser at amino acid position 113 is changed to a Leu (identified as the S113L variant) Treatment of CPT2 Deficiency Clinical intervention in patients with CPT2 deficiency includes reducing the intake of long-chain fatty acids while still ensuring adequate intake of the essential fatty acids, linolenic and linoleic acid

doi: 10.1007/s004010050513 100 YamamotoS.KayamaT.Noguchi-ShinoharaM.HamaguchiT.YamadaM.AbeK.et al

A temporary policy could arrive sooner than a completed rule, while notice-and-comment rulemaking can take months or longer

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