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학술저널
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대한진단검사의학회 Annals of Laboratory Medicine Annals of Laboratory Medicine 제39권 제4호
발행연도
2019.1
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411 - 413 (3page)

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Dear Editor, Levels of phytosterols, including plant sterols and stanols, are increased in lipid storage disorders such as cerebrotendinous xanthomatosis (CTX) and sitosterolemia. Both are autosomal recessive diseases with heterogeneous clinical manifestations, such as tendon xanthoma, cataracts, and progressive neurologic abnormalities. Decreased bile acid synthesis in CTX leads to the accumulation of cholestanol [1], whereas increased intestinal absorption and decreased biliary excretion in sitosterolemia lead to increased sitosterol and campesterol levels [2]. If appropriately treated, the outcomes of both diseases can dramatically improve. However, it is difficult to measure phytosterol levels using standard diagnostic assays. For example, enzymatic colorimetry, based on the reaction with a C-5 double bond or the presence of a 3β-hydroxyl group, cannot differentiate between cholesterol and phytosterols because these groups are present in both sterol types [3, 4]. Among the methods that can properly measure phytosterol levels, mass spectrometry (MS) is deemed superior because of its high analytical sensitivity and specificity. We developed and evaluated a triplex phytosterol assay utilizing gas chromatography (GC-MS). The study was approved by the Institutional Review Board of Seoul National University Hospital and Seoul National University Bundang Hospital (E-1901-001-998).

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