Mutations in the GLA gene and LysoGb3: Is it really Anderson-Fabry disease?

Riccardo Alessandro, Luisa Amico, Rosa Napoletano, Alessandro Burlina, Eleonora Riccio, Yuri Battaglia, Daniele Masarone, Marina Caserta, Cinzia Castana, Sandro Feriozzi, Marco Spada, Alberto Burlina, Giuseppe Palladino, Giulia Polo, Daniele Francofonte, Carmela Zizzo, Margherita Stefania Rodolico, Ines Monte, Simone Scalia, Marco LombardiAntonello Giordano, Maurizio Tenuta, Antonio Pisani, Marco Spada, Giuseppe Palladino, Roberta Oliveri, Antonello Giordano, Rosa Napoletano, Antonello Giordano, Marco Spada, Paolo Colomba, Serafina Sciarrino, Federico Pieruzzi, Giuseppe Limongelli, Elisabetta Zachara, Giovanni Duro, Riccardo Alessandro, Maurizio Postorino, Giuseppe Cammarata, Maria Angela Losi, Maurizio Pieroni, Camillo Autore, Andrea Frustaci, Cristina Chimenti, Renzo Mignani, Carmine Zoccali, Claudio Ferri, Alessandra Testa

Risultato della ricerca: Articlepeer review

27 Citazioni (Scopus)


Anderson-Fabry disease (FD) is a rare, progressive, multisystem storage disorder caused by the partial or total deficit of the lysosomal enzyme α-galactosidase A (α-Gal A). It is an X-linked, lysosomal enzymopathy due to mutations in the galactosidase alpha gene (GLA), encoding the α-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. α-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, α-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.
Lingua originaleEnglish
pagine (da-a)3726-3738
Numero di pagine13
RivistaInternational Journal of Molecular Sciences
Stato di pubblicazionePublished - 2018

All Science Journal Classification (ASJC) codes

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  • ???subjectarea.asjc.1300.1312???
  • ???subjectarea.asjc.1600.1607???
  • ???subjectarea.asjc.1700.1706???
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