파브리병의 신속한 진단을 위한 소변 중 Globotriaosylsphingosine의 UPLC-ESI-MS/MS 분석법

• 영문명: Quantification of Globotriaosylsphingosine in Urine using UPLC-ESI-MS/MS; Application for Screening Fabry Disease
• 발행기관: 대한약학회
• 저자명: 윤혜란(Hye-Ran Yoon)
• 간행물 정보: 『약학회지』제60권 제1호(2016년), 15~20쪽, 전체 6쪽
• 주제분류: 의약학 > 기타의약학
• 파일형태: PDF
• 발행일자: 2016.02.28

영문 초록

Globotriaosylsphingosine (lyso Gb3) is considered as one of the biomarkers for Fabry disease. A rapid and simple UPLC-MS/MS method was developed for the determination of reliable biomarker, lyso Gb3. Total analytical procedure takes only 15 min including sample preparation and MS/MS analysis. Limit of detection was 0.85 ng/ml (S/N=3). The calibration curve was linear over the range of 2.0~400.0 ng/ml (R2=0.9999). Inter-day and intra-day assay accuracy were 93.4~100.6% (RSD, 0.6~6.0%) and 97.5~100.7% (RSD, 3.6~5.2%). Absolute recoveries of 97.6~98.6 showed excellence of a new analytical method. The method was applied to human and mice urines, proved the suitability for the quantification of lyso-Gb3 for screening, diagnosis and therapeutic monitoring of Fabry disease patients.

키워드

Fabry disease Lyso-Gb3 MS/MS inherited disease