Twelve different enzyme assays on dried-blood filter paper samples for detection of patients with selected inherited lysosomal storage diseases

Selective Screening for Lysosomal Storage Diseases with Dried Blood Spots Collected on Filter Paper in 4,700 High-Risk Colombian Subjects

“…Upon following up on the condition of the patients remitted for b-glucosidase, all cases showed evidence of various levels of leukopenia, which can affect sample quality and has been reported to be a variant that might affect the analytical processes (Civallero et al 2006;Jiménez et al 2011) (Table 2). In the present study, DBS analyses of b-glucosidase detected 103 deficient patients and the leukocyte assay confirmed only 101 Gaucher patients, finding two false positives and suggesting a possible interference due to low leukocyte counts.…”

“…Analytical assays on DBS for b-galactosidase, total hexosaminidase, a-galactosidase A, a-L-iduronidase, b-glucosidase, and chitotriosidase were based on the protocols proposed by Chamoles et al (2001aChamoles et al ( , 2001bChamoles et al ( , 2002 and Civallero et al (2006). The analysis of a-glucosidase was performed according to a standardized methodology described by Kallwass et al (2007) and Li et al (2004).…”

“…The analysis of a-glucosidase was performed according to a standardized methodology described by Kallwass et al (2007) and Li et al (2004). The analysis of arylsulfatase B was performed using a standardized methodology based on the analytical principle of the leukocyte analysis proposed by Shapira et al (1989) and Civallero et al (2006). The analysis of iduronate sulfatase was performed using an adaptation of the methods of Voznyi et al (2001) and Civallero et al (2006).…”

“…Lysosomal storage disorders usually involve an accumulation of three groups of compounds: sphingolipids, mucopolysaccharides, and oligosaccharides, molecules that may be detected in affected individuals but do not offer specific diagnostic clues (Futerman et al 2004;Filocamo and Morrone 2011). Next, these preliminary tests were followed by specific enzymatic studies -which involved plasma, leukocytes, or cultured fibroblasts samples -aimed to provide definitive diagnosis (Civallero et al 2006).…”

“…It consists in the enzymatic analysis of dried blood spots (DBS) collected on filter paper ( Fig. 1) (Chamoles et al 2001a(Chamoles et al , 2001bNiizawa et al 2005;Civallero et al 2006;M€ uller et al 2010). This methodology facilitates the packing and shipment of samples because it does not require strict refrigeration and eases the collection of samples for analysis at reference testing centers, allowing the study of high-risk populations without regard to their geographical location.…”