{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,23]],"date-time":"2026-10-23T20:58:34Z","timestamp":1792789114167,"version":"4.5.0"},"reference-count":138,"publisher":"MDPI AG","issue":"3","license":[{"start":{"date-parts":[[2020,3,22]],"date-time":"2020-03-22T00:00:00Z","timestamp":1584835200000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100003593","name":"Conselho Nacional de Desenvolvimento Cient\u00edfico e Tecnol\u00f3gico","doi-asserted-by":"publisher","award":["465549\/2014-4"],"award-info":[{"award-number":["465549\/2014-4"]}],"id":[{"id":"10.13039\/501100003593","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100003593","name":"Conselho Nacional de Desenvolvimento Cient\u00edfico e Tecnol\u00f3gico","doi-asserted-by":"publisher","award":["405495\/2018-8"],"award-info":[{"award-number":["405495\/2018-8"]}],"id":[{"id":"10.13039\/501100003593","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100002322","name":"Coordena\u00e7\u00e3o de Aperfei\u00e7oamento de Pessoal de N\u00edvel Superior","doi-asserted-by":"publisher","award":["88887.136366\/2017-00"],"award-info":[{"award-number":["88887.136366\/2017-00"]}],"id":[{"id":"10.13039\/501100002322","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100004263","name":"Funda\u00e7\u00e3o de Amparo \u00e0 Pesquisa do Estado do Rio Grande do Sul","doi-asserted-by":"publisher","award":["17\/2551-0000521-0"],"award-info":[{"award-number":["17\/2551-0000521-0"]}],"id":[{"id":"10.13039\/501100004263","id-type":"DOI","asserted-by":"publisher"}]},{"name":"FIPE-HCPA","award":["17-0445"],"award-info":[{"award-number":["17-0445"]}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Diagnostics"],"abstract":"<jats:p>The mucopolysaccharidoses (MPSs) include 11 different conditions caused by specific enzyme deficiencies in the degradation pathway of glycosaminoglycans (GAGs). Although most MPS types present increased levels of GAGs in tissues, including blood and urine, diagnosis is challenging as specific enzyme assays are needed for the correct diagnosis. Enzyme assays are usually performed in blood, with some samples (as leukocytes) providing a final diagnosis, while others (such as dried blood spots) still being considered as screening methods. The identification of variants in the specific genes that encode each MPS-related enzyme is helpful for diagnosis confirmation (when needed), carrier detection, genetic counseling, prenatal diagnosis (preferably in combination with enzyme assays) and phenotype prediction. Although the usual diagnostic flow in high-risk patients starts with the measurement of urinary GAGs, it continues with specific enzyme assays and is completed with mutation identification; there is a growing trend to have genotype-based investigations performed at the beginning of the investigation. In such cases, confirmation of pathogenicity of the variants identified should be confirmed by measurement of enzyme activity and\/or identification and\/or quantification of GAG species. As there is a growing number of countries performing newborn screening for MPS diseases, the investigation of a low enzyme activity by the measurement of GAG species concentration and identification of gene mutations in the same DBS sample is recommended before the suspicion of MPS is taken to the family. With specific therapies already available for most MPS patients, and with clinical trials in progress for many conditions, the specific diagnosis of MPS as early as possible is becoming increasingly necessary. In this review, we describe traditional and the most up to date diagnostic methods for mucopolysaccharidoses.<\/jats:p>","DOI":"10.3390\/diagnostics10030172","type":"journal-article","created":{"date-parts":[[2020,3,23]],"date-time":"2020-03-23T04:03:01Z","timestamp":1584936181000},"page":"172","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":73,"title":["Diagnosis of Mucopolysaccharidoses"],"prefix":"10.3390","volume":"10","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-9330-0154","authenticated-orcid":false,"given":"Francyne","family":"Kubaski","sequence":"first","affiliation":[{"name":"Postgraduate Program in Genetics and Molecular Biology, UFRGS, Porto Alegre 91501-970, Brazil"},{"name":"Medical Genetics Service, HCPA, Porto Alegre 90035-903, Brazil"},{"name":"INAGEMP, Porto Alegre 90035-903, Brazil"},{"name":"Biodiscovery Research Group, Experimental Research Center, HCPA, Porto Alegre 90035-903, Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0804-2876","authenticated-orcid":false,"given":"Fabiano","family":"de Oliveira Poswar","sequence":"additional","affiliation":[{"name":"Postgraduate Program in Genetics and Molecular Biology, UFRGS, Porto Alegre 91501-970, Brazil"},{"name":"Medical Genetics Service, HCPA, Porto Alegre 90035-903, Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kristiane","family":"Michelin-Tirelli","sequence":"additional","affiliation":[{"name":"Medical Genetics Service, HCPA, Porto Alegre 90035-903, Brazil"},{"name":"Biodiscovery Research Group, Experimental Research Center, HCPA, Porto Alegre 90035-903, Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-1633-8941","authenticated-orcid":false,"given":"Maira Graeff","family":"Burin","sequence":"additional","affiliation":[{"name":"Medical Genetics Service, HCPA, Porto Alegre 90035-903, Brazil"},{"name":"Biodiscovery Research Group, Experimental Research Center, HCPA, Porto Alegre 90035-903, Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-8107-7621","authenticated-orcid":false,"given":"Diana","family":"Rojas-M\u00e1laga","sequence":"additional","affiliation":[{"name":"Postgraduate Program in Genetics and Molecular Biology, UFRGS, Porto Alegre 91501-970, Brazil"},{"name":"Medical Genetics Service, HCPA, Porto Alegre 90035-903, Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ana Carolina","family":"Brusius-Facchin","sequence":"additional","affiliation":[{"name":"Medical Genetics Service, HCPA, Porto Alegre 90035-903, Brazil"},{"name":"INAGEMP, Porto Alegre 90035-903, Brazil"},{"name":"Biodiscovery Research Group, Experimental Research Center, HCPA, Porto Alegre 90035-903, Brazil"},{"name":"Postgraduate Program in Medicine, Clinical Sciences, UFRGS, Porto Alegre 90035-003, Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-3792-6168","authenticated-orcid":false,"given":"Sandra","family":"Leistner-Segal","sequence":"additional","affiliation":[{"name":"Medical Genetics Service, HCPA, Porto Alegre 90035-903, Brazil"},{"name":"INAGEMP, Porto Alegre 90035-903, Brazil"},{"name":"Biodiscovery Research Group, Experimental Research Center, HCPA, Porto Alegre 90035-903, Brazil"},{"name":"Postgraduate Program in Medicine, Clinical Sciences, UFRGS, Porto Alegre 90035-003, Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Roberto","family":"Giugliani","sequence":"additional","affiliation":[{"name":"Postgraduate Program in Genetics and Molecular Biology, UFRGS, Porto Alegre 91501-970, Brazil"},{"name":"Medical Genetics Service, HCPA, Porto Alegre 90035-903, Brazil"},{"name":"INAGEMP, Porto Alegre 90035-903, Brazil"},{"name":"Biodiscovery Research Group, Experimental Research Center, HCPA, Porto Alegre 90035-903, Brazil"},{"name":"Postgraduate Program in Medicine, Clinical Sciences, UFRGS, Porto Alegre 90035-003, Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2020,3,22]]},"reference":[{"key":"ref_1","unstructured":"Neufeld, E., and Muenzer, J. 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