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In contrast, digital biomarkers primarily quantify observable clinical phenotypes and then correlate them with underlying mechanisms by referencing known pathophysiological pathways and clinical experience, thereby supporting interpretability across levels of models, features, mechanisms, and clinical aspects

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PubMed Kamal HI, Patel K, Brdak A, Heffernan J, Ahmad N

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)