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Molecular & cellular toxicology v.6 no.2, 2010년, pp.203 - 207   SCIE
본 등재정보는 저널의 등재정보를 참고하여 보여주는 베타서비스로 정확한 논문의 등재여부는 등재기관에 확인하시기 바랍니다.

Evaluation of the urinary globotriaosylceramide (Gb3) assay by tandem mass spectrometry

Song, Min-Jung    (Department of Laboratory Medicine & Genetics, Sunkyunkwan University School of Medicine, Samsung Medical Center   ); Ji, Ok-Ja    (Department of Laboratory Medicine & Genetics, Sunkyunkwan University School of Medicine, Samsung Medical Center   ); Park, Hyung-Doo    (Department of Laboratory Medicine & Genetics, Sunkyunkwan University School of Medicine, Samsung Medical Center   ); Jin, Dong-Kyu    (Department of Pediatrics, Sunkyunkwan University School of Medicine, Samsung Medical Center   ); Lee, Soo-Youn    (Department of Laboratory Medicine & Genetics, Sunkyunkwan University School of Medicine, Samsung Medical Center  );
  • 초록

    Fabry disease (FD) is an X-linked lysosomal storage disorder resulting from a deficiency of $\alpha$ -galactosidase A, which leads to the progressive accumulation of one biomarker, globotriaosylceramide (Gb3), prominently elevated in the urine of affected patients. Using filter paper discs saturated with urine, we evaluated the analytical performance and clinical usefulness of the urinary Gb3 assay by tandem mass spectrometry (LC-MS/MS), with respect to linearity, precision, and reproducibility. We used healthy control urine samples to validate the reference interval of urinary Gb3. This method showed a good linearity ( $R^2=0.9998$ ) in the range of $0.05-10\;{\mu}g/mL$ . Within-run CVs were less than 5% and total CVs were within 10%. The mean recovery of Gb3 from the urine filter paper was 96.7% and the limit of quantification (S/N $\geq$ 5) was $0.05\;{\mu}g/mL$ , which was sensitive enough for the diagnosis of FD. The mean concentration of Gb3 in urine samples from healthy Korean controls was $5.93{\pm}3.6\;{\mu}g/mmol$ Cr (range $0.9-16.43\;{\mu}g/mmol$ Cr). The urinary Gb3 assay by LC-MS/MS showed good analytical performance required for the diagnosis of FD in its linearity, precision, and accuracy. Therefore, this technique could be used for a rapid and reliable first line screening, monitoring and/or diagnosis of individuals at high risk for FD.


  • 주제어

    Fabry disease .   Globotriaosylceramide .   Tandem mass spectrometry .   Urine filter paper.  

  • 참고문헌 (19)

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