IDEHU   05542
INSTITUTO DE ESTUDIOS DE LA INMUNIDAD HUMORAL PROF. RICARDO A. MARGNI
Unidad Ejecutora - UE
artículos
Título:
Reliability of enzyme assays in dried blood spots for diagnosis of 4 lysosomal storage disorders
Autor/es:
CECI R; DE FRANCESCO P N; MUCCI J M; CANCELARICH L N; FOSSATI C A; ROZENFELD P A
Revista:
Advances in Biological Chemistry
Editorial:
Scientific Research Publishing
Referencias:
Año: 2011 p. 54 - 64
ISSN:
2162-2191
Resumen:
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 indi-viduals, were collected and dispen-sed in filter paper, and used for enzymatic activity determination. Re-sults: Diagnosis of hemi/homo-zygous patients with Fabry, Hunter and Maroteaux-Lamy diseases using DBS samples showed ideal parameters of 100% sen-sitivity and specificity. DBS assay for Gaucher dis-ease would need a posterior confirmatory step. Con-clusions: Leukocyte measu-rement is the only reli-able way to diagnose Gaucher disease. For Hunter, Fabry and Maroteaux-Lamy disorders discrimina-tion between patients and controls seems adequate by DBS.