Reliability of enzyme assays in dried blood spots for diagnosis of 4 lysosomal storage disorders

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 sa...

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Autores principales: Ceci, Romina, De Francesco, Pablo Nicolás, Mucci, Juan Marcos, Cancelarich, Natalia Lorena, Fossati, Carlos Alberto, Rozenfeld, Paula Adriana
Formato: Articulo
Lenguaje:Inglés
Publicado: 2011
Materias:
Biología
Lysosomal Storage Disorders
Diagnosis
Dried Blood Spots
Sensitivity
Enzymatic Activity
Reliability
Acceso en línea:http://sedici.unlp.edu.ar/handle/10915/119269
Aporte de:
SEDICI (UNLP) de Universidad Nacional de La Plata
id I19-R120-10915-119269
record_format dspace
institution Universidad Nacional de La Plata
institution_str I-19
repository_str R-120
collection SEDICI (UNLP)
language Inglés
topic Biología
Lysosomal Storage Disorders
Diagnosis
Dried Blood Spots
Sensitivity
Enzymatic Activity
Reliability
spellingShingle Biología
Lysosomal Storage Disorders
Diagnosis
Dried Blood Spots
Sensitivity
Enzymatic Activity
Reliability
Ceci, Romina
De Francesco, Pablo Nicolás
Mucci, Juan Marcos
Cancelarich, Natalia Lorena
Fossati, Carlos Alberto
Rozenfeld, Paula Adriana
Reliability of enzyme assays in dried blood spots for diagnosis of 4 lysosomal storage disorders
topic_facet Biología
Lysosomal Storage Disorders
Diagnosis
Dried Blood Spots
Sensitivity
Enzymatic Activity
Reliability
description 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.
format Articulo
Articulo
author Ceci, Romina
De Francesco, Pablo Nicolás
Mucci, Juan Marcos
Cancelarich, Natalia Lorena
Fossati, Carlos Alberto
Rozenfeld, Paula Adriana
author_facet Ceci, Romina
De Francesco, Pablo Nicolás
Mucci, Juan Marcos
Cancelarich, Natalia Lorena
Fossati, Carlos Alberto
Rozenfeld, Paula Adriana
author_sort Ceci, Romina
title Reliability of enzyme assays in dried blood spots for diagnosis of 4 lysosomal storage disorders
title_short Reliability of enzyme assays in dried blood spots for diagnosis of 4 lysosomal storage disorders
title_full Reliability of enzyme assays in dried blood spots for diagnosis of 4 lysosomal storage disorders
title_fullStr Reliability of enzyme assays in dried blood spots for diagnosis of 4 lysosomal storage disorders
title_full_unstemmed Reliability of enzyme assays in dried blood spots for diagnosis of 4 lysosomal storage disorders
title_sort reliability of enzyme assays in dried blood spots for diagnosis of 4 lysosomal storage disorders
publishDate 2011
url http://sedici.unlp.edu.ar/handle/10915/119269
work_keys_str_mv AT ceciromina reliabilityofenzymeassaysindriedbloodspotsfordiagnosisof4lysosomalstoragedisorders
AT defrancescopablonicolas reliabilityofenzymeassaysindriedbloodspotsfordiagnosisof4lysosomalstoragedisorders
AT muccijuanmarcos reliabilityofenzymeassaysindriedbloodspotsfordiagnosisof4lysosomalstoragedisorders
AT cancelarichnatalialorena reliabilityofenzymeassaysindriedbloodspotsfordiagnosisof4lysosomalstoragedisorders
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bdutipo_str Repositorios
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