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Effect of temperature on lysosomal enzyme activity during preparation and storage of dried blood spots
Author(s) -
Supriya Manjunath,
De Tanima,
Christopher Rita
Publication year - 2018
Publication title -
journal of clinical laboratory analysis
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.536
H-Index - 50
eISSN - 1098-2825
pISSN - 0887-8013
DOI - 10.1002/jcla.22220
Subject(s) - acid sphingomyelinase , dried blood , dried blood spot , enzyme , chemistry , chromatography , glucocerebrosidase , filter paper , lysosomal storage disorders , lysosomal storage disease , ceramide , spots , enzyme assay , biochemistry , apoptosis
Background The use of dried blood spots ( DBS ) for the assay of lysosomal enzymes has facilitated the implementation of pilot studies for newborn screening for lysosomal storage disorders in various developed countries. The aim of the study was to determine the influence of ambient temperature during DBS preparation and storage on lysosomal enzyme activity in a developing, tropical country. Methods Blood samples from 12 healthy subjects collected on a S&S 903 filter paper were dried and stored at different temperatures for different periods of time. Activities of five lysosomal enzymes (acid α‐glucosidase, acid α‐galactosidase, acid β‐glucocerebrosidase, acid sphingomyelinase, and galactocerebrosidase) were determined by tandem mass spectrometric and fluorimetric (acid α‐glucosidase and acid β‐glucocerebrosidase only) assays. Results The mean activities of all five enzymes decreased significantly when DBS was dried at temperatures above 24°C ( P <.0001). DBS stored at 4°C, 24°C, 30°C, 37°C, and 45°C for 10 days and more, also showed significant reduction in activities of all five enzymes ( P <.0001). Conclusion The results highlight the importance of maintaining the correct ambient temperature during DBS preparation and storage to avoid false positive results when screening for lysosomal storage disorders.

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