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Screening for lysosomal diseases in a selected pediatric population: the case of Gaucher disease and acid sphingomyelinase deficiency
BACKGROUND: GD and ASMD are lysosomal storage disorders that enter into differential diagnosis due to the possible overlap in their clinical manifestations. The availability of safe and effective enzymatic therapies has recently led many investigators to develop and validate new screening tools, suc...
Autores principales: | , , , , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
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BioMed Central
2023
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10362631/ https://www.ncbi.nlm.nih.gov/pubmed/37480063 http://dx.doi.org/10.1186/s13023-023-02797-0 |
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author | Di Rocco, Maja Vici, Carlo Dionisi Burlina, Alberto Venturelli, Francesco Fiumara, Agata Fecarotta, Simona Donati, Maria Alice Spada, Marco Concolino, Daniela Pession, Andrea |
author_facet | Di Rocco, Maja Vici, Carlo Dionisi Burlina, Alberto Venturelli, Francesco Fiumara, Agata Fecarotta, Simona Donati, Maria Alice Spada, Marco Concolino, Daniela Pession, Andrea |
author_sort | Di Rocco, Maja |
collection | PubMed |
description | BACKGROUND: GD and ASMD are lysosomal storage disorders that enter into differential diagnosis due to the possible overlap in their clinical manifestations. The availability of safe and effective enzymatic therapies has recently led many investigators to develop and validate new screening tools, such as algorithms, for the diagnosis of LSDs where the lack of disease awareness or failure to implement newborn screening results in a delayed diagnosis. RESULTS: the proposed algorithm allows for the clinical and biochemical differentiation between GD and ASMD. It is based on enzyme activity assessed on dried blood spots by multiplexed tandem mass spectrometry (MS/MS) coupled to specific biomarkers as second-tier analysis. CONCLUSIONS: we believe that this method will provide a simple, convenient and sensitive tool for the screening of a selected population that can be used by pediatricians and other specialists (such as pediatric hematologists and pediatric hepatologists) often engaged in diagnosing these disorders. |
format | Online Article Text |
id | pubmed-10362631 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2023 |
publisher | BioMed Central |
record_format | MEDLINE/PubMed |
spelling | pubmed-103626312023-07-23 Screening for lysosomal diseases in a selected pediatric population: the case of Gaucher disease and acid sphingomyelinase deficiency Di Rocco, Maja Vici, Carlo Dionisi Burlina, Alberto Venturelli, Francesco Fiumara, Agata Fecarotta, Simona Donati, Maria Alice Spada, Marco Concolino, Daniela Pession, Andrea Orphanet J Rare Dis Research BACKGROUND: GD and ASMD are lysosomal storage disorders that enter into differential diagnosis due to the possible overlap in their clinical manifestations. The availability of safe and effective enzymatic therapies has recently led many investigators to develop and validate new screening tools, such as algorithms, for the diagnosis of LSDs where the lack of disease awareness or failure to implement newborn screening results in a delayed diagnosis. RESULTS: the proposed algorithm allows for the clinical and biochemical differentiation between GD and ASMD. It is based on enzyme activity assessed on dried blood spots by multiplexed tandem mass spectrometry (MS/MS) coupled to specific biomarkers as second-tier analysis. CONCLUSIONS: we believe that this method will provide a simple, convenient and sensitive tool for the screening of a selected population that can be used by pediatricians and other specialists (such as pediatric hematologists and pediatric hepatologists) often engaged in diagnosing these disorders. BioMed Central 2023-07-21 /pmc/articles/PMC10362631/ /pubmed/37480063 http://dx.doi.org/10.1186/s13023-023-02797-0 Text en © The Author(s) 2023 https://creativecommons.org/licenses/by/4.0/Open Access This article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons licence, and indicate if changes were made. The images or other third party material in this article are included in the article’s Creative Commons licence, unless indicated otherwise in a credit line to the material. If material is not included in the article’s Creative Commons licence and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this licence, visit http://creativecommons.org/licenses/by/4.0/ (https://creativecommons.org/licenses/by/4.0/) . The Creative Commons Public Domain Dedication waiver (http://creativecommons.org/publicdomain/zero/1.0/ (https://creativecommons.org/publicdomain/zero/1.0/) ) applies to the data made available in this article, unless otherwise stated in a credit line to the data. |
spellingShingle | Research Di Rocco, Maja Vici, Carlo Dionisi Burlina, Alberto Venturelli, Francesco Fiumara, Agata Fecarotta, Simona Donati, Maria Alice Spada, Marco Concolino, Daniela Pession, Andrea Screening for lysosomal diseases in a selected pediatric population: the case of Gaucher disease and acid sphingomyelinase deficiency |
title | Screening for lysosomal diseases in a selected pediatric population: the case of Gaucher disease and acid sphingomyelinase deficiency |
title_full | Screening for lysosomal diseases in a selected pediatric population: the case of Gaucher disease and acid sphingomyelinase deficiency |
title_fullStr | Screening for lysosomal diseases in a selected pediatric population: the case of Gaucher disease and acid sphingomyelinase deficiency |
title_full_unstemmed | Screening for lysosomal diseases in a selected pediatric population: the case of Gaucher disease and acid sphingomyelinase deficiency |
title_short | Screening for lysosomal diseases in a selected pediatric population: the case of Gaucher disease and acid sphingomyelinase deficiency |
title_sort | screening for lysosomal diseases in a selected pediatric population: the case of gaucher disease and acid sphingomyelinase deficiency |
topic | Research |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10362631/ https://www.ncbi.nlm.nih.gov/pubmed/37480063 http://dx.doi.org/10.1186/s13023-023-02797-0 |
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