BECAS
CANCELARICH Natalia Lorena
artículos
Título:
Reliability of enzyme assays in dried blood spots for diagnosis of 4 lysosomal storage disorders
Autor/es:
ROMINA CECI; PABLO N. DE FRANCESCO; JUAN M. MUCCI; LORENA N. CANCELARICH; CARLOS A. FOSSATI; PAULA A. ROZENFELD
Revista:
Advances in Biological Chemistry
Editorial:
Scientific Research Publishing
Referencias:
Año: 2011 vol. 1 p. 58 - 64
ISSN:
2162-2183
Resumen:
Introduction: Lysosomal storage disorders (LSD) are inherited diseases caused, in the majority of them, by the deficiency of lysosomal enzymatic activities. Objectives: 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 Maroteaux-Lamy syndromes and normal control individuals, were collected and dispensed in filter paper, and used for enzymatic activity determination. Results: Diagnosis of hemi/homozygous 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 measurement 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.