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Molecular genetics and metabolism reports 2024
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
10.1038/npp.2017.150 78 PannacciulliN.LeD
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