{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,14]],"date-time":"2026-10-14T16:05:35Z","timestamp":1791993935390,"version":"4.4.0"},"reference-count":84,"publisher":"MDPI AG","issue":"21","license":[{"start":{"date-parts":[[2020,10,29]],"date-time":"2020-10-29T00:00:00Z","timestamp":1603929600000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["IJMS"],"abstract":"<jats:p>Fabry disease is a rare lysosomal storage disorder caused by a deficiency of \u03b1-galactosidase A, resulting in multisystemic involvement. Lyso-Gb3 (globotriaosylsphingosine), the deacylated form of Gb3, is currently measured in plasma as a biomarker of classic Fabry disease. Intensive research of biomarkers has been conducted over the years, in order to detect novel markers that may potentially be used in clinical practice as a screening tool, in the context of the diagnostic process and as an indicator of response to treatment. An interesting field of application of such biomarkers is the management of female heterozygotes who present difficulty in predictable clinical progression. This review aims to summarise the current evidence and knowledge about general and specific markers that are actually measured in subjects with confirmed or suspected Fabry disease; moreover, we report potential novel markers such as microRNAs. Recent proteomic or metabolomic studies are in progress bringing out plasma proteome profiles in Fabry patients: this assessment may be useful to characterize molecular pathology of the disease, to improve diagnostic process, and to monitor response to treatment. The management of Fabry disease may be improved by the identification of biomarkers that reflect clinical course, severity, and the progression of the disease.<\/jats:p>","DOI":"10.3390\/ijms21218080","type":"journal-article","created":{"date-parts":[[2020,10,29]],"date-time":"2020-10-29T09:44:53Z","timestamp":1603964693000},"page":"8080","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":64,"title":["Biomarkers in Anderson\u2013Fabry Disease"],"prefix":"10.3390","volume":"21","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-1574-104X","authenticated-orcid":false,"given":"Irene","family":"Simonetta","sequence":"first","affiliation":[{"name":"Department of Health Promotion, Maternal and Infant Care, Internal Medicine and Medical Specialties, \u201cG. D\u2019Alessandro\u201d, University of Palermo, Piazza delle Cliniche n.2, 90127 Palermo, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Antonino","family":"Tuttolomondo","sequence":"additional","affiliation":[{"name":"Department of Health Promotion, Maternal and Infant Care, Internal Medicine and Medical Specialties, \u201cG. D\u2019Alessandro\u201d, University of Palermo, Piazza delle Cliniche n.2, 90127 Palermo, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1413-5945","authenticated-orcid":false,"given":"Mario","family":"Daidone","sequence":"additional","affiliation":[{"name":"Department of Health Promotion, Maternal and Infant Care, Internal Medicine and Medical Specialties, \u201cG. D\u2019Alessandro\u201d, University of Palermo, Piazza delle Cliniche n.2, 90127 Palermo, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Antonio","family":"Pinto","sequence":"additional","affiliation":[{"name":"Department of Health Promotion, Maternal and Infant Care, Internal Medicine and Medical Specialties, \u201cG. D\u2019Alessandro\u201d, University of Palermo, Piazza delle Cliniche n.2, 90127 Palermo, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2020,10,29]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"509","DOI":"10.1007\/s10545-010-9261-9","article-title":"Toward a consensus in the laboratory diagnostics of Fabry disease\u2014Recommendations of a European expert group","volume":"34","author":"Gal","year":"2011","journal-title":"J. Inherit. Metab. 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