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Patients homozygous for p.N32S had lower mean plasma carnitine levels, the lowest mean residual OCTN2 carnitine transport activity in their fibroblasts, and had a high risk of having symptoms (hypoglycemia or cardiomyopathy in children, sudden death or fatigue in adults) [142], with plasma and tissue carnitine levels dropping rapidly after discontinuation of oral carnitine supplements [143]

PMID: 15591002

While standard L-carnitine is highly effective at supporting skeletal muscle and cardiovascular tissue, it struggles to penetrate the central nervous system

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Sensitivity analysis on genetically predicted l-carnitine and CVD risk factors overall using different analytic methods