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LysoGb3定量化促进了法布里病患者的表型分类:通过一种新的MS/MS方法获得的见解

Ladislav Kuchar¹, Linda Berna¹, Helena Poupetova¹

¹Research Unit for Rare Diseases, Department of Paediatrics and Inherited Metabolic Disorders, First Faculty of Medicine, Charles University and General University Hospital, Prague, Czech Republic.

Clinica chimica acta; international journal of clinical chemistry

|June 21, 2024

概括

一种新方法准确地测量了血lysoglobotriaosylceramide (lysoGb3) 以诊断法布里病 (FD). 阿尔法-银酸酶A (AGAL) 活性与血lysogb3比率有效预测男性和女性的FD表型.

科学领域:

生物化学生物化学
遗传学是一个遗传学.
医学诊断医学诊断医学诊断

背景情况:

法布里病 (FD) 是一种X链 lysosomal储存障碍,由GLA基因的病原变异引起.
全球基胺 (Gb3) 和其衍生物的积累,如lysogb3,是FD的标志.
Gb3,lysogb3和甲基化-Gb3 (metGb3) 是潜在的生物标志物用于FD诊断.

研究的目的:

开发和验证一种新的LC-MS/MS方法,用于量化血lysogb3.
在FD患者中评估血lysogb3,尿Gb3和metGb3的诊断效用.
评估α-银酸酶A (AGAL) 活性与这些脂质生物标志物之间的相关性.

主要方法:

开发了一种新的液体染色学-双重质谱法 (LC-MS/MS) 试验,用于血lysogb3的量化.
在62名FD患者,34名GLA VUS携带者和59名健康对照中测量了血lysogb3,尿液gb3和尿液metgb3.
同时评估了白细胞 (WBC) 和血中的AGAL酶活性.

主要成果:

血lysogb3水平有效地区分了古典和晚期发病的FD男性与GLA VUS载体和健康对照.
AGAL活性与血lysogb3的比率准确地分类了女性和大多数晚发性FD男性.
在白细胞和脂质生物标记物中的AGAL活性之间的相关性确定了生物标记物升高的临界活性值.

结论:

成功开发了一种简化的LC-MS/MS方法用于血lysogb3量化.
AGAL活性/血lysogb3比率成为诊断法布里病的最可靠的预测指标.
AGAL活性与血lysogb3有很强的相关性,反映了个别的FD表型.

关键词:

诊断诊断诊断诊断费布里病是什么意思费布里病是什么意思环球三基化物氨酸.Lysosomal 存储器中的溶酶体.质谱测量质量谱测量现象型现象型是一种表现型.

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