Biochemical Genetics, Institute of Medical Genetics & Genomics, Sir Ganga Ram Hospital, New Delhi 110060, India.
Biochemical Genetics, Institute of Medical Genetics & Genomics, Sir Ganga Ram Hospital, New Delhi 110060, India.
Clin Chim Acta. 2021 Oct;521:177-190. doi: 10.1016/j.cca.2021.07.017. Epub 2021 Jul 17.
BACKGROUND & AIMS: Lysosomal storage disorders (LSDs) remain a significant cause of morbidity in the Indian population and treatment is largely out of reach for most patients. Although data on enzymatic and molecular diagnosis of Gaucher disease (GD) and Fabry disease (FD) in Indian patients are available, the present study intended to establish the pathogenic levels of Lyso GL-1 and Lyso GL-3 in patients of GD and FD respectively as diagnostic aids.
From 2017 to 2019, ninety confirmed Gaucher cases (by enzymatic and molecular analysis) were tested for chitotriosidase (fluorometrically) and Lyso GL-1 (LC-MS/MS) and ten confirmed Fabry cases were analyzed for Lyso GL-3 (LC-MS/MS).
Lyso GL-1 (median: 685.5 ng/mL, cut-off: 14) and Lyso GL-3 (median: 75.6 ng/mL, cut-off: 3.5) were found to be elevated in all enzymatically deficient patients of GD and FD respectively, however, no specific trend was observed between the levels of these biomarkers and the pathogenic variant(s) present in the patients of these disorders.
This is the first report on Lyso GL-1 and Lyso GL-3 levels in Indian patients of GD and FD respectively. These results will be useful for early diagnosis to improve management of these LSDs.
溶酶体贮积症（LSDs）仍然是印度人群发病率的重要原因，大多数患者的治疗仍难以企及。尽管印度患者的戈谢病（GD）和法布里病（FD）的酶学和分子诊断数据已有报道，但本研究旨在建立 GD 和 FD 患者溶酶体 GL-1 和溶酶体 GL-3 的致病性水平，作为诊断辅助。
2017 年至 2019 年，对 90 例经酶学和分子分析证实的戈谢病患者进行了几丁质酶（荧光法）和溶酶体 GL-1（LC-MS/MS）检测，对 10 例经证实的法布里病患者进行了溶酶体 GL-3（LC-MS/MS）分析。
GD 和 FD 中所有酶缺乏的患者中，溶酶体 GL-1（中位数：685.5ng/mL，临界值：14）和溶酶体 GL-3（中位数：75.6ng/mL，临界值：3.5）均升高，但这些生物标志物的水平与这些疾病患者中存在的致病性变异之间没有观察到特定的趋势。
这是关于 GD 和 FD 印度患者的溶酶体 GL-1 和溶酶体 GL-3 水平的首次报告。这些结果将有助于早期诊断，改善这些 LSD 的治疗管理。
