CPT2 and metabolic disease: To further clarify the metabolic disorder resulting from CPT II deficiency, the effects of thermal instability, CPT II enzymatic activities (S2 Table), fatty acid oxidation flux, and cellular ATP production were analyzed at 37°C and 41°C in patient fibroblasts p.V368I (homozygous), p.F352C (heterozygous) + p.V368I (homozygous) and control fibroblasts (Fig. 6).