Schultz Matthew J, Hall Patricia L, Pino Gisele Bentz, White Amy L, Peck Dawn S, Studinski April L, Thies Jenny M, Gavrilov Dimitar, Oglesbee Devin, Tortorelli Silvia, Matern Dietrich
Biochemical Genetics Laboratory, Division of Laboratory Genetics and Genomics, Department of Laboratory Medicine and Pathology, Rochester, Minnesota, USA.
J Inherit Metab Dis. 2025 Nov;48(6):e70093. doi: 10.1002/jimd.70093.
More than 60 lysosomal disorders have been described to date, and continued advancements in molecular (i.e., next generation sequencing) and biochemical (i.e., mass spectrometry) genetic testing will increase this number. In parallel, the same advancements have improved laboratory efficiency by allowing the simultaneous measurement of multiple enzyme activities and/or biomarker concentrations, as well as the rapid generation of genomic information with fewer tests. Here, we provide an overview of currently available biochemical and molecular genetic tests, and how they and their correlation to each other can support screening, diagnosis, and monitoring of patients with lysosomal disorders.
迄今为止，已描述了60多种溶酶体疾病，随着分子（即下一代测序）和生化（即质谱）基因检测技术的不断进步，这一数字还会增加。与此同时，这些进步提高了实验室效率，可同时检测多种酶活性和/或生物标志物浓度，并通过更少的检测快速生成基因组信息。在此，我们概述了目前可用的生化和分子基因检测方法，以及它们之间的相互关系如何支持溶酶体疾病患者的筛查、诊断和监测。
