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Diseases 2016, 4(4), 40; doi:10.3390/diseases4040040

Biomarkers in Lysosomal Storage Diseases

1
Servicio de Bioquímica Clínica, Unidad de Gestión Clínica de Laboratorios, Hospital Universitario Nuestra Señora de Valme, 41014-Sevilla, Spain
2
Servicio de Fisiopatología Celular y Bioenergética, Servicios Centrales de Investigación, Universidad Pablo de Olavide, 41013-Sevilla, Spain
*
Author to whom correspondence should be addressed.
Academic Editors: Jose A. Sanchez-Alcazar and Maurizio Battino
Received: 22 July 2016 / Revised: 4 December 2016 / Accepted: 12 December 2016 / Published: 17 December 2016
(This article belongs to the Collection Lysosomal Storage Diseases)
View Full-Text   |   Download PDF [251 KB, uploaded 17 December 2016]

Abstract

A biomarker is generally an analyte that indicates the presence and/or extent of a biological process, which is in itself usually directly linked to the clinical manifestations and outcome of a particular disease. The biomarkers in the field of lysosomal storage diseases (LSDs) have particular relevance where spectacular therapeutic initiatives have been achieved, most notably with the introduction of enzyme replacement therapy (ERT). There are two main types of biomarkers. The first group is comprised of those molecules whose accumulation is directly enhanced as a result of defective lysosomal function. These molecules represent the storage of the principal macro-molecular substrate(s) of a specific enzyme or protein, whose function is deficient in the given disease. In the second group of biomarkers, the relationship between the lysosomal defect and the biomarker is indirect. In this group, the biomarker reflects the effects of the primary lysosomal defect on cell, tissue, or organ functions. There is no “gold standard” among biomarkers used to diagnosis and/or monitor LSDs, but there are a number that exist that can be used to reasonably assess and monitor the state of certain organs or functions. A number of biomarkers have been proposed for the analysis of the most important LSDs. In this review, we will summarize the most promising biomarkers in major LSDs and discuss why these are the most promising candidates for screening systems. View Full-Text
Keywords: biomarkers; lysosomal storage disorders (LSDs); enzyme replacement therapy (ERT) biomarkers; lysosomal storage disorders (LSDs); enzyme replacement therapy (ERT)
This is an open access article distributed under the Creative Commons Attribution License which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited. (CC BY 4.0).

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MDPI and ACS Style

Bobillo Lobato, J.; Jiménez Hidalgo, M.; Jiménez Jiménez, L.M. Biomarkers in Lysosomal Storage Diseases. Diseases 2016, 4, 40.

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