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Artículo

Update on the fluorometric measurement of enzymatic activities for Lysosomal Storage Disorder detection: The example of MPS VI

Franco, Paula GabrielaIcon ; Adamo, Ana MaríaIcon ; Mathieu, Patricia AndreaIcon ; Perez, Maria JuliaIcon ; Setton, Clara PatriciaIcon ; Silvestroff, LucasIcon
Fecha de publicación: 01/2017
Editorial: Sciaccess
Revista: Journal of Rare Diseases Research & Treatment
ISSN: 2572-9411
Idioma: Inglés
Tipo de recurso: Artículo publicado
Clasificación temática:
Otras Ciencias Biológicas

Resumen

Lysosomal Storage Disorders (LSD) are rare diseases that as a whole havea combined incidence ranging from 1:1500 to 1:7000 live births. One of suchdiseases is Mucopolysaccharidosis VI (MPS VI), or Maroteaux Lamy Syndrome.MPS VI patients undergo devastating and irreversible skeletal alterations andmultisystemic failure as from early childhood due to reduced Arylsulfatse B(ARSB) enzyme activity.Reaching a final diagnosis is not always a short cut path, but rather a yearslongbattle against uncertainty and unnecessary medical interventions. Ouraim is to contribute from the bench table with different approaches that couldserve as alternatives to pre-existing assays for screening and diagnosing MPSVI and other LSD.The present work is based on our research article authored by Franco etal.1 where we studied the effect of blood-derived hemoglobin, and other bloodcomponents, on the fluorescence of 4-Methylumbelliferone when measuringARSB enzyme activity from dried blood spot (DBS) samples.Our experience indicates that to date there are plenty of differentapproaches for measuring ARSB enzyme activity, although the sample typerequired or the assay in itself often make them more adaptable for either highthroughput screening or small scale diagnostics.As a whole, the fluorometric determinations seem to be the mostaccessible to low budget laboratories with equally valuable performancesas a sophisticated mass spectrometry analysis for this disease. Furthermore,the DBS serves as an attractive sample type for screening the disease in largepopulations.
Palabras clave: Arylsulfatase B , Newborn Screening , Mucopolysaccharidosis Vi
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info:eu-repo/semantics/openAccess Excepto donde se diga explícitamente, este item se publica bajo la siguiente descripción: Creative Commons Attribution-NonCommercial-ShareAlike 2.5 Unported (CC BY-NC-SA 2.5)
Identificadores
URI: http://hdl.handle.net/11336/47428
URL: http://www.rarediseasesjournal.com/articles/update-on-the-fluorometric-measureme
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Articulos(IQUIFIB)
Articulos de INST.DE QUIMICA Y FISICO-QUIMICA BIOLOGICAS "PROF. ALEJANDRO C. PALADINI"
Citación
Franco, Paula Gabriela; Adamo, Ana María; Mathieu, Patricia Andrea; Perez, Maria Julia; Setton, Clara Patricia; et al.; Update on the fluorometric measurement of enzymatic activities for Lysosomal Storage Disorder detection: The example of MPS VI; Sciaccess; Journal of Rare Diseases Research & Treatment; 2; 1; 1-2017; 56-61
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