서혜진 (한국과학기술연구원, 서강대학교)

최만호 (한국과학기술연구원)

서혜진 (한국과학기술연구원, 서강대학교)

오한빈 (서강대학교)

최만호 (한국과학기술연구원)

Although dried blood spot (DBS) sampling offers minimal invasiveness, easy and simplified collection, and stable storage/transportation, its quantitative accuracy remains limited by imprecise blood volume control and the hematocrit effect.  This study assessed evaluated the diagnostic potential of DBS for rare inherited disorders of sterol metabolism, including sitosterolemia, lathosterolosis, and cerebrotendinous xanthomatosis (CTX), by comparing GC-MS-based sterol profiles obtained from DBS with those from 100 µL dried serum spot (DSS), as the reference matrix.  Both DBS and DSS samples were collected from patients, their family members, and non-disease controls.  Spearman correlation and Bland-Altman analyses (A/B ratio) were performed across all study groups.  Seventeen of the 18 sterols showed significant positive correlation in both the overall and the disease groups, while 16 of the 18 sterols demonstrated significant positive correlation in the non-disease controls.  Among these, lathosterol (r = 0.948/0.871/0.882; all/non-disease controls/disease groups, p < 0.001) and desmosterol (r = 0.874/0.737/0.971, p < 0.001) exhibited the strongest and most consistent concordance between DBS and DSS measurement.  Disease-specific biomarker elevations were found in both DBS and DSS, including sitosterol in sitosterolemia, lathosterol in lathosterolosis and 27-OH-cholestenone in CTX.  These findings support the reliability and diagnostic performance of DBS for the diagnosis of inherited sterol metabolic disorders.

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