{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,14]],"date-time":"2026-10-14T16:05:40Z","timestamp":1791993940807,"version":"4.4.0"},"reference-count":30,"publisher":"MDPI AG","issue":"12","license":[{"start":{"date-parts":[[2018,11,23]],"date-time":"2018-11-23T00:00:00Z","timestamp":1542931200000},"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>Anderson-Fabry disease (FD) is a rare, progressive, multisystem storage disorder caused by the partial or total deficit of the lysosomal enzyme \u03b1-galactosidase A (\u03b1-Gal A). It is an X-linked, lysosomal enzymopathy due to mutations in the galactosidase alpha gene (GLA), encoding the \u03b1-Gal A. To date, more than 900 mutations in this gene have been described. In our laboratories, the study of genetic and enzymatic alterations related to FD was performed in about 17,000 subjects with a symptomatology referable to this disorder. The accumulation of globotriaosylsphingosine (LysoGb3) was determined in blood of positives. Exonic mutations in the GLA gene were detected in 471 patients (207 Probands and 264 relatives): 71.6% of mutations were associated with the classic phenotype, 19.8% were associated with the late-onset phenotype, and 8.6% of genetic variants were of unknown significance (GVUS). The accumulation of LysoGb3 was found in all male patients with a mutation responsible for classic or late-onset FD. LysoGb3 levels were consistent with the type of mutations and the symptomatology of patients. \u03b1-Gal A activity in these patients is absent or dramatically reduced. In recent years, confusion about the pathogenicity of some mutations led to an association between non-causative mutations and FD. Our study shows that the identification of FD patients is possible by associating clinical history, GLA gene analysis, \u03b1-Gal A assay, and blood accumulation of LysoGB3. In our experience, LysoGB3 can be considered a reliable marker, which is very useful to confirm the diagnosis of Fabry disease.<\/jats:p>","DOI":"10.3390\/ijms19123726","type":"journal-article","created":{"date-parts":[[2018,11,23]],"date-time":"2018-11-23T12:20:28Z","timestamp":1542975628000},"page":"3726","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":90,"title":["Mutations in the GLA Gene and LysoGb3: Is It Really Anderson-Fabry Disease?"],"prefix":"10.3390","volume":"19","author":[{"given":"Giovanni","family":"Duro","sequence":"first","affiliation":[{"name":"Institute of Biomedicine and Molecular Immunology \u201cA. Monroy\u201d, National Research Council, 90146 Palermo, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Carmela","family":"Zizzo","sequence":"additional","affiliation":[{"name":"Institute of Biomedicine and Molecular Immunology \u201cA. Monroy\u201d, National Research Council, 90146 Palermo, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Giuseppe","family":"Cammarata","sequence":"additional","affiliation":[{"name":"Institute of Biomedicine and Molecular Immunology \u201cA. Monroy\u201d, National Research Council, 90146 Palermo, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-2224-4706","authenticated-orcid":false,"given":"Alessandro","family":"Burlina","sequence":"additional","affiliation":[{"name":"Neurological Unit, St Bassiano Hospital, 36061 Bassano del Grappa, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7724-137X","authenticated-orcid":false,"given":"Alberto","family":"Burlina","sequence":"additional","affiliation":[{"name":"Division of Inherited Metabolic Diseases, Regional Center for Expanded Neonatal Screening Department of Women and Children\u2019s Health, University Hospital of Padova, 35128 Padova, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-3157-2979","authenticated-orcid":false,"given":"Giulia","family":"Polo","sequence":"additional","affiliation":[{"name":"Division of Inherited Metabolic Diseases, Regional Center for Expanded Neonatal Screening Department of Women and Children\u2019s Health, University Hospital of Padova, 35128 Padova, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Simone","family":"Scalia","sequence":"additional","affiliation":[{"name":"Institute of Biomedicine and Molecular Immunology \u201cA. 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Monroy\u201d, National Research Council, 90146 Palermo, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9935-1040","authenticated-orcid":false,"given":"Riccardo","family":"Alessandro","sequence":"additional","affiliation":[{"name":"Institute of Biomedicine and Molecular Immunology \u201cA. Monroy\u201d, National Research Council, 90146 Palermo, Italy"},{"name":"Department of Biopathology and Medical Biotechnologies\u2014Section of Biology and Genetics, University of Palermo, 90133 Palermo, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Antonio","family":"Pisani","sequence":"additional","affiliation":[{"name":"Department of Public Health, Nephrology Unit, University of Naples \u201cFederico II\u201d, 80131 Naples, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Giuseppe","family":"Palladino","sequence":"additional","affiliation":[{"name":"Nephrology Unit, University Hospital \u201cSan Giovanni di Dio e Ruggi d\u2019Aragona\u201d, 84131 Salerno, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rosa","family":"Napoletano","sequence":"additional","affiliation":[{"name":"Neurology Unit, University Hospital \u201cSan Giovanni di Dio e Ruggi d\u2019Aragona\u201d, 84131 Salerno, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maurizio","family":"Tenuta","sequence":"additional","affiliation":[{"name":"Neurology Unit, University Hospital \u201cSan Giovanni di Dio e Ruggi d\u2019Aragona\u201d, 84131 Salerno, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6781-7424","authenticated-orcid":false,"given":"Daniele","family":"Masarone","sequence":"additional","affiliation":[{"name":"Division of Cardiology, Second University of Naples, Presidio Monaldi, 80131 Naples, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Giuseppe","family":"Limongelli","sequence":"additional","affiliation":[{"name":"Division of Cardiology, Second University of Naples, Presidio Monaldi, 80131 Naples, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Eleonora","family":"Riccio","sequence":"additional","affiliation":[{"name":"Department of Public Health, Nephrology Unit, University of Naples \u201cFederico II\u201d, 80131 Naples, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Andrea","family":"Frustaci","sequence":"additional","affiliation":[{"name":"Department of Cardiovascular, Respiratory, Nephrologic, Anesthesiologic and GeriatricSciences, Sapienza University, 00161 Rome, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Cristina","family":"Chimenti","sequence":"additional","affiliation":[{"name":"Department of Cardiovascular, Respiratory, Nephrologic, Anesthesiologic and GeriatricSciences, Sapienza University, 00161 Rome, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Claudio","family":"Ferri","sequence":"additional","affiliation":[{"name":"Nephrology Unit, Hospital of L\u2019Aquila, 67100 L\u2019Aquila, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Federico","family":"Pieruzzi","sequence":"additional","affiliation":[{"name":"Nephrology Unit, Department of Medicine and Surgery, University of Milano-Bicocca, 20900 Monza, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maurizio","family":"Pieroni","sequence":"additional","affiliation":[{"name":"Cardiovascular Department, San Donato Hospital, 52100 Arezzo, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marco","family":"Spada","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Division of Metabolic Diseases, Turin University Hospital, 10126 Turin, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Cinzia","family":"Castana","sequence":"additional","affiliation":[{"name":"Paediatric Hospital \u201cG. 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Monroy\u201d, National Research Council, 90146 Palermo, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2018,11,23]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"1163","DOI":"10.1056\/NEJM196705252762101","article-title":"Enzymatic defect in Fabry\u2019s disease. Ceramidetrihexosidase deficiency","volume":"276","author":"Brady","year":"1967","journal-title":"N. Engl. J. Med."},{"key":"ref_2","doi-asserted-by":"crossref","first-page":"3301","DOI":"10.1093\/nar\/17.8.3301","article-title":"Nucleotide sequence of the human alpha-galactosidase A gene","volume":"17","author":"Kornreich","year":"1989","journal-title":"Nucleic Acids Res."},{"key":"ref_3","doi-asserted-by":"crossref","first-page":"130","DOI":"10.1016\/j.jpeds.2017.06.048","article-title":"Newborn Screening for Lysosomal Storage Disorders in Illinois: The Initial 15-Month Experience","volume":"190","author":"Burton","year":"2017","journal-title":"J. Pediatr."},{"key":"ref_4","doi-asserted-by":"crossref","first-page":"335","DOI":"10.1016\/S0140-6736(11)61266-X","article-title":"Neonatal screening for lysosomal storage disorders: Feasibility and incidence from a nationwide study in Austria","volume":"379","author":"Mechtler","year":"2012","journal-title":"Lancet"},{"key":"ref_5","unstructured":"Scriver, C.R., and Beaudet, A.L. (2001). Alpha-galactosidase A deficiency: Fabry disease. The Metabolic and Molecular Basis of Inherited Disease, McGraw-Hill. [8th ed.]."},{"key":"ref_6","doi-asserted-by":"crossref","first-page":"30","DOI":"10.1186\/1750-1172-5-30","article-title":"Fabry disease","volume":"5","author":"Germain","year":"2010","journal-title":"Orphanet J. Rare Dis."},{"key":"ref_7","doi-asserted-by":"crossref","first-page":"1631","DOI":"10.1681\/ASN.2016090964","article-title":"Characterization of Classical and Nonclassical Fabry Disease: A Multicenter Study","volume":"28","author":"Arends","year":"2017","journal-title":"J. Am. Soc. Nephrol."},{"key":"ref_8","doi-asserted-by":"crossref","first-page":"288","DOI":"10.1056\/NEJM199508033330504","article-title":"An atypical variant of Fabry\u2019s disease in men with left ventricular hypertrophy","volume":"333","author":"Nakao","year":"1995","journal-title":"N. Engl. J. Med."},{"key":"ref_9","doi-asserted-by":"crossref","first-page":"801","DOI":"10.1046\/j.1523-1755.2003.00160.x","article-title":"Fabry disease: Detection of undiagnosed hemodialysis patients and identification of a \u201crenal variant\u201d phenotype","volume":"64","author":"Nakao","year":"2003","journal-title":"Kidney Int."},{"key":"ref_10","doi-asserted-by":"crossref","first-page":"34","DOI":"10.1097\/GIM.0b013e31802d8321","article-title":"Heterozygous Fabry women are not just carriers, but have a significant burden of disease and impaired quality of life","volume":"9","author":"Wang","year":"2007","journal-title":"Genet. Med."},{"key":"ref_11","doi-asserted-by":"crossref","first-page":"44","DOI":"10.1111\/cge.12613","article-title":"X-chromosome inactivation in female patients with Fabry disease","volume":"89","author":"Echevarria","year":"2016","journal-title":"Clin. Genet."},{"key":"ref_12","doi-asserted-by":"crossref","first-page":"828","DOI":"10.1016\/j.jpeds.2010.02.012","article-title":"Misdiagnosis in Fabry disease","volume":"156","author":"Marchesoni","year":"2010","journal-title":"J. Pediatr."},{"key":"ref_13","doi-asserted-by":"crossref","first-page":"571","DOI":"10.1111\/j.1399-0004.2011.01718.x","article-title":"Fabry disease \u201cThe New Great Imposter\u201d: Results of the French Observatoire in Internal Medicine Departments (FIMeD)","volume":"81","author":"Lidove","year":"2012","journal-title":"Clin. Genet."},{"key":"ref_14","doi-asserted-by":"crossref","first-page":"148","DOI":"10.1016\/j.ymgme.2017.07.002","article-title":"Genotype, phenotype and disease severity reflected by serum LysoGb3 levels in patients withFabry disease","volume":"123","author":"Nowak","year":"2018","journal-title":"Mol. Genet. MeTable"},{"key":"ref_15","doi-asserted-by":"crossref","first-page":"450","DOI":"10.1161\/CIRCGENETICS.109.862920","article-title":"High incidence of the cardiac variant of Fabry disease revealed by newborn screening in the Taiwan Chinese population","volume":"2","author":"Lin","year":"2009","journal-title":"Circ. Cardiovasc. Genet."},{"key":"ref_16","doi-asserted-by":"crossref","first-page":"52","DOI":"10.1186\/s13023-018-0792-8","article-title":"Fabry disease in the Spanish population: Observational study with detection of 77 patients","volume":"13","author":"Vieitez","year":"2018","journal-title":"Orphanet J. Rare Dis."},{"key":"ref_17","doi-asserted-by":"crossref","first-page":"1075","DOI":"10.1007\/s00431-017-2950-8","article-title":"Newborn screening for Fabry disease in the north-west of Spain","volume":"176","author":"Colon","year":"2017","journal-title":"Eur. J. Pediatr."},{"key":"ref_18","doi-asserted-by":"crossref","first-page":"284","DOI":"10.1007\/s10157-015-1146-7","article-title":"Prevalence of Fabry disease in dialysis patients: Japan Fabry disease screening study (J-FAST)","volume":"20","author":"Saito","year":"2016","journal-title":"Clin. Exp. Nephrol."},{"key":"ref_19","doi-asserted-by":"crossref","first-page":"1385","DOI":"10.1007\/s00431-017-2992-y","article-title":"Fabry disease in children: A federal screening programme in Russia","volume":"176","author":"Baranov","year":"2017","journal-title":"Eur. J. Pediatr."},{"key":"ref_20","doi-asserted-by":"crossref","first-page":"647","DOI":"10.1007\/s00109-005-0656-2","article-title":"Relationship between X-inactivation and clinical involvement in Fabry heterozygotes. Eleven novel mutations in the alpha-galactosidase A gene in the Czech and Slovak population","volume":"83","author":"Dobrovolny","year":"2005","journal-title":"J. Mol. Med."},{"key":"ref_21","doi-asserted-by":"crossref","first-page":"2812","DOI":"10.1073\/pnas.0712309105","article-title":"Elevated globotriaosylsphingosine is a hallmark of Fabry disease","volume":"105","author":"Aerts","year":"2008","journal-title":"Proc. Natl. Acad. Sci. USA"},{"key":"ref_22","doi-asserted-by":"crossref","first-page":"716","DOI":"10.1002\/1873-3468.12104","article-title":"Lysosomal glycosphingolipid catabolism by acid ceramidase: Formation of glycosphingoid bases during deficiency of glycosidases","volume":"590","author":"Ferraz","year":"2016","journal-title":"FEBS Lett."},{"key":"ref_23","doi-asserted-by":"crossref","first-page":"490","DOI":"10.1097\/00005072-199309000-00007","article-title":"Effects of psychosine (galactosylsphingosine) on the survival and the fine structure of cultured Schwann cells","volume":"52","author":"Tanaka","year":"1993","journal-title":"J. Neuropathol. Exp. Neurol."},{"key":"ref_24","doi-asserted-by":"crossref","first-page":"595","DOI":"10.1016\/j.nbd.2003.08.016","article-title":"Toxicity of glucosylsphingosine (glucopsychosine) to cultured neuronal cells: A model system for assessing neuronal damage in Gaucher disease type 2 and 3","volume":"14","author":"Schueler","year":"2003","journal-title":"Neurobiol. Dis."},{"key":"ref_25","doi-asserted-by":"crossref","unstructured":"Elstein, D., and Altarescu, G. (2010). Biomarkers for Fabry Disease. Fabry Disease, Springer.","DOI":"10.1007\/978-90-481-9033-1"},{"key":"ref_26","doi-asserted-by":"crossref","first-page":"741","DOI":"10.1016\/j.bbadis.2010.05.003","article-title":"Plasma globotriaosylsphingosine: Diagnostic value and relation to clinical manifestations of Fabry disease","volume":"1802","author":"Rombach","year":"2010","journal-title":"Biochim. Biophys. Acta."},{"key":"ref_27","doi-asserted-by":"crossref","first-page":"99","DOI":"10.1016\/j.ymgme.2009.10.004","article-title":"Vasculopathy in patients with Fabry disease: Current controversies and research directions","volume":"99","author":"Rombach","year":"2010","journal-title":"Mol. Genet. MeTable"},{"key":"ref_28","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1136\/jmedgenet-2013-101857","article-title":"A systematic review on screening for Fabry disease: Prevalence of individuals with genetic variants of unknown significance","volume":"51","author":"Smid","year":"2014","journal-title":"J. Med. Genet."},{"key":"ref_29","doi-asserted-by":"crossref","first-page":"195","DOI":"10.1016\/S0009-8981(01)00478-8","article-title":"Fabry disease: Enzymatic diagnosis in dried blood spots on filter paper","volume":"308","author":"Chamoles","year":"2001","journal-title":"Clin. Chim. Acta"},{"key":"ref_30","doi-asserted-by":"crossref","first-page":"403","DOI":"10.1515\/cclm-2016-0340","article-title":"Diagnosis of sphingolipidoses: A new simultaneous measurement of lysosphingolipids by LC-MS\/MS","volume":"55","author":"Polo","year":"2017","journal-title":"Clin. Chem. Lab. Med."}],"container-title":["International Journal of Molecular Sciences"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.mdpi.com\/1422-0067\/19\/12\/3726\/pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,11]],"date-time":"2025-10-11T15:31:36Z","timestamp":1760196696000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.mdpi.com\/1422-0067\/19\/12\/3726"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2018,11,23]]},"references-count":30,"journal-issue":{"issue":"12","published-online":{"date-parts":[[2018,12]]}},"alternative-id":["ijms19123726"],"URL":"https:\/\/doi.org\/10.3390\/ijms19123726","relation":{},"ISSN":["1422-0067"],"issn-type":[{"value":"1422-0067","type":"electronic"}],"subject":[],"published":{"date-parts":[[2018,11,23]]}}}