新生儿筛查
串联质谱法
干血
医学
溶酶体贮存病
克拉贝病
切断
酶
质谱法
色谱法
内科学
生物化学
疾病
儿科
白质营养不良
化学
物理
量子力学
作者
Yao Chen,Yan Yang,Yinglin Zeng,Qingying Lin,Peiran Zhao,Bin Mao,Xiaolong Qiu,Ting‐Chun Huang,Liangpu Xu,Wenbin Zhu
标识
DOI:10.1177/00099228231219336
摘要
This study was designed to screen 6 lysosomal storage diseases (LSDs) in neonates using tandem mass spectrometry (MS/MS), and establish cutoff values for these LSDs with 3000 dried blood spots (DBS) samples. Cutoff values for α-L-iduronidase (IDUA), α-galactosidase (GLA), acid beta glucosidase (ABG), β-galactocerebrosidase (GALC), acid sphingomyelinase (ASM), and acid alpha glucosidase (GAA) were as follows: GLA, > 2.06 μmol/L·h; ABG, > 1.78 μmol/L·h; ASM, > 0.99 μmol/L·h; IDUA, > 1.33 μmol/L·h; GALC, > 0.84 μmol/L·h; and GAA, > 2.06 μmol/L·h. There were 30 positives in initial MS/MS screening test, and 15 samples were still positive with repeat testing. Their parents/guardians were recontacted and DBS samples were collected again for test. Only 1 child showed abnormal GAA enzyme activity after recontacting process, and was diagnosed with Pompe disease after genetic screening. Eventually, cutoff values of 6 specific enzyme activities were established and MS/MS is effective for early LSDs screening.
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