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Description

Patients with secondary carnitine deficiency accumulate organic acids which causes enhanced urinary excretion of carnitine in the form of acyl-carnitines [36, 37]

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Genetic sequencing is not solely a research tool for CVS but is employed on a daily basis by the Corresponding Author in the clinical management of the condition in his patients, generally involving WGS as it also includes useful information in the mtDNA sequence, genetic architecture (large rearrangements), and pharmacogenomic variants (e.g., in dosing amitriptyline)