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160delCp.Leu54Serfs*18) and a missense variant (c.1259 T Cp.Phe420Ser). The plasma concentration of individual very long chain fatty acids (C240, C250, and C26 was elevated, and we found that peroxisomes in fibroblasts of the patients were larger in size and fewer in number as previously reported in patients with ACOX1 deficiency. Furthermore, the C240 β-oxidation activity was dramatically reduced. Our findings suggest that the elevation of individual plasma very long chain fatty acids concentration, genetic analysis incl