Methods for determination of ?-glycosidase, ß-glycosidase, and ?-galactosidase activities in dried blood spot samples
Küçük Resim Yok
Tarih
2017
Yazarlar
Dergi Başlığı
Dergi ISSN
Cilt Başlığı
Yayıncı
Humana Press Inc.
Erişim Hakkı
info:eu-repo/semantics/closedAccess
Özet
The lysosomal storage diseases (LDSs) are a heterogeneous group of inherited genetic disorders caused by defects of lysosomal proteins. The accumulation of undigested substrates from different catabolic pathways leads to cellular dysfunction. LSDs generally presents during early childhood and have a devastating impact on the families and on public health. Over the years, approaches for treatment of some LSDs have been developed with different strategies. Increasing availability of treatments of these diseases has accelerated the development of new methods and techniques for rapid diagnosis in patients with clinical indication. The use of dried blood spot (DBS) test has been proposed as a first tier test to identify patients with Gaucher, Pompe, and Fabry diseases. DBS usage is advantageous for the purpose of screening as it is non-invasive, sensitive, has low-cost and fast turnaround time compared to measurements in leucocyte and/or fibroblast culture. This chapter focuses on the activity measurement of three lysosomal enzymes (?-glucosidase, ß-glucosidase, and ? galactosidase) in DBS samples by using fluorescent substrates and by the LC-MS/MS (liquid chromatography-mass spectrometry) method. All steps of the methods, from preparation of the solutions to calculation of the enzyme activity, will be explained in detail. © Springer Science+Business Media LLC 2017.
Açıklama
Anahtar Kelimeler
Dry blood spot analysis, Lysosomal storage disorders, ?-Galactosidase, ?-Glycosidase, ß-Glycosidase
Kaynak
Methods in Molecular Biology
WoS Q Değeri
Scopus Q Değeri
Q3
Cilt
1594
