Reliability of enzyme assays in dried blood spots for diagnosis of 4 lysosomal storage disorders
Reliability of enzyme assays in dried blood spots for diagnosis of 4 lysosomal storage disorders作者机构：不详
出 版 物：《Advances in Biological Chemistry》 (生物化学进展（英文）)
年 卷 期：2011年第1卷第3期
页 面：58-64页
学科分类：1002[医学-临床医学] 100214[医学-肿瘤学] 10[医学]
主 题：Lysosomal Storage Disorders Diagnosis Dried Blood Spots Sensitivity Enzymatic Activity Reliability
摘 要：Introduction: Lysosomal storage disorders (LSD) are inherited diseases caused, in the majority of them, by the deficiency of lysosomal enzymatic activities. Ob-jectives: We aimed to analyze the usefulness of DBS samples for diagnosis of 4 LSDs, with the availability of a large quantity of patient samples. Design and methods: Blood samples from previously diagnosed patients with Fabry, Gaucher, Hunter, and Maro-teaux-Lamy syndromes and normal control individ-uals, were collected and dispen-sed in filter paper, and used for enzymatic activity determination. Results: Diagnosis of hemi/homo-zygous patients with Fabry, Hunter and Maroteaux-Lamy diseases using DBS samples showed ideal parameters of 100% sensitivity and specificity. DBS assay for Gaucher disease would need a posterior confirmatory step. Conclusions: Leukocyte measu-rement is the only reliable way to diagnose Gaucher disease. For Hunter, Fabry and Maroteaux-Lamy disorders discrimination between patients and controls seems adequate by DBS.
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