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Clin Biochem ; 44(8-9): 704-10, 2011 Jun.
Article in English | MEDLINE | ID: mdl-21382365

ABSTRACT

OBJECTIVE: We aimed to prepare dried-blood spot (DBS) quality control (QC) materials for lysosomal storage disease (LSD) screening tests and to determine optimum blood and DBS storage conditions. METHODS: We compared enzyme activities of five LSD markers in adult blood, umbilical-cord blood, and leukocyte-reduced blood. We measured activities in liquid blood and DBSs after predetermined intervals at controlled temperatures and humidities. RESULTS: Lysosomal-enzyme activity levels in umbilical-cord blood mimicked those in newborn screening samples. Lysosomal-enzyme activities in leukocyte-reduced blood were lower than in LSD-positive patient samples. Enzyme activities were stable in refrigerated liquid blood for 32 days and in frozen DBSs stored at low humidity for a year. Activity losses from DBSs after 34 days at 37±1°C were 35%-66% in low humidity and 61%-100% in high humidity. CONCLUSIONS: Umbilical-cord blood is the preferred matrix for LSD-normal DBS QC materials. Leukocyte-reduced blood is lysosomal enzyme-deficient. Failure to control humidity during DBS storage results in loss of lysosomal-enzyme activities.


Subject(s)
Lysosomal Storage Diseases/diagnosis , Lysosomal Storage Diseases/enzymology , Lysosomes/enzymology , Adult , Clinical Enzyme Tests , Female , Humans , Infant, Newborn , Lysosomal Storage Diseases/blood , Neonatal Screening , Pregnancy , Quality Control
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