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Clin Chem：通过LC-MS/MS的淋巴细胞半乳糖脑苷脂酶活性进行新生儿Krabbe病筛查

2017-08-31 MedSci MedSci原创

Krabbe病筛查
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近日，国际杂志 《Clinical Chemistry》上在线发表一项关于通过LC-MS/MS的淋巴细胞半乳糖脑苷脂酶活性进行新生儿Krabbe病筛查的研究。

近日，国际杂志 《Clinical Chemistry》上在线发表一项关于通过LC-MS/MS的淋巴细胞半乳糖脑苷脂酶活性进行新生儿Krabbe病筛查的研究。

溶酶体酶半乳糖基前脑酶（GALC）缺乏会导致Krabbe病。Krabbe病的新生儿筛查需要改进对筛选阳性婴儿进行后续分析的方法，以更好地为家庭提供建议并优化治疗。研究人员报告了淋巴细胞中GALC的酶活性的新检测方法。

研究人员采用磁珠技术从静脉血中分离T淋巴细胞。该测定方法使用天然底物和LC-MS/MS的紧密结构类似物，借助于化学相同的内标来量化产物的量。测定的分析范围（QC高标准的测定反应与所有非酶依赖性过程的测定反应比例）比常规放射GALC测定的分析范围大20倍。LC-MS/MS可以从有活性酶痕迹的细胞中区分GALC中无效的细胞（低于正常值的0.3％）。淋巴细胞残留GALC活性水平与Krabbe病严重程度之间有很好的相关性。

与以前的测定相比，新的测定法可以高准确测量白细胞中少量残留的GALC活性，并且可以与基因分型，生物标志物分析和神经影像学一起进行，是一种更好新生儿Krabbe筛查随访计划。

原始出处：

Hsuan-Chieh Liao, Zdenek Spacil, Farideh Ghomashchi,et al. Lymphocyte Galactocerebrosidase Activity by LC-MS/MS for Post–Newborn Screening Evaluation of Krabbe Disease

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    2018-03-07 chenzhuanggui

    #Krabbe病#

    0

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    2017-09-02 wetgdt

    #淋巴细胞#

    0

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    2017-09-02 minzju5058

    #乳糖#

    0