https://scholars.lib.ntu.edu.tw/handle/123456789/525927
標題: | Newborn screening for Fabry disease by measuring GLA activity using tandem mass spectrometry | 作者: | Dajnoki A. Fekete G. Keutzer J. Orsini J.J. De Jesus V.R. YIN-HSIU CHIEN WUH-LIANG HWU Lukacs Z. M?hl A. Zhang X.K. Bodamer O. |
公開日期: | 2010 | 卷: | 411 | 期: | 19-20 | 起(迄)頁: | 1428-1431 | 來源出版物: | Clinica Chimica Acta | 摘要: | Background: Fabry disease (FD) is an X-linked lysosomal storage disorder caused by the deficiency of α-galactosidase A (GLA). We evaluated a tandem mass spectrometry method to measure GLA activity. Methods: One 3.2. mm punch from a dried blood spot sample (DBS) was incubated with substrate and internal standard in the reaction buffer for 22. h. The resulting product was quantified against internal standard using MS/MS. Results: The median GLA activity of male newborn DBS (N=5025) was 9.85 ± 6.4 μmol/h/l (CI 95% is 9.67-10.02 μmol/h/l); The median GLA activity of female newborns (N=4677) was 10.2 ± 6.3 μmol/h/l (CI 95% is 10.02-10.38 μmol/h/l). The difference between the two subgroups is within assay analytical variation. The GLA activities in the DBS samples from 9 juvenile and adult males with previously identified FD were below 1.64 μmol/h/l. The GLA activities from 32 juvenile and adult females with confirmed FD were below 4.73 μmol/h/l. In 5 (16%) females GLA activities were above the 0.5th percentile of lower limit of CI 95% at 3.18 μmol/h/l. Conclusions: The MS/MS method for Fabry disease newborn screening is robust and can be readily multiplexed with other lysosomal disorders such as Pompe, Gaucher, Niemann-Pick, and Krabbe diseases. ? 2010 Elsevier B.V. |
URI: | https://www.scopus.com/inward/record.uri?eid=2-s2.0-77955056761&doi=10.1016%2fj.cca.2010.03.009&partnerID=40&md5=6b51469ac0de2a5337ae43399a765e81 https://scholars.lib.ntu.edu.tw/handle/123456789/525927 |
ISSN: | 0009-8981 | DOI: | 10.1016/j.cca.2010.03.009 | SDG/關鍵字: | alpha galactosidase; article; blood analysis; controlled study; enzyme activity; Fabry disease; female; human; male; newborn; newborn screening; priority journal; reference value; tandem mass spectrometry; validity; alpha-Galactosidase; Fabry Disease; Female; Humans; Infant, Newborn; Male; Neonatal Screening; Sex Factors; Tandem Mass Spectrometry |
顯示於: | 醫學系 |
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