GM1 gangliosidosis and Morquio B disease: an update on genetic alterations and clinical findings.

doi:10.1016/j.bbadis.2011.03.018

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Article

GM1 gangliosidosis and Morquio B disease: an update on genetic alterations and clinical findings.

Biochimica et biophysica acta - 1 Jul 2011

Caciotti Anna, Garman Scott C, Rivera-Colón Yadilette, Procopio Elena, Catarzi Serena, Ferri Lorenzo, Guido Carmen, Martelli Paola, Parini Rossella, Antuzzi Daniela, Battini Roberta, Sibilio Michela, Simonati Alessandro, Fontana Elena, Salviati Alessandro, Akinci Gulcin, Cereda Cristina, Dionisi-Vici Carlo, Deodato Francesca, d'Amico Adele, d'Azzo Alessandra, Bertini Enrico, Filocamo Mirella, Scarpa Maurizio, di Rocco Maja, Tifft Cynthia J, Ciani Federica, Gasperini Serena, Pasquini Elisabetta, Guerrini Renzo, Donati Maria Alice, Morrone Amelia

Abstract excerpt

GM1 gangliosidosis and Morquio B syndrome, both arising from beta-galactosidase (GLB1) deficiency, are very rare lysosomal storage diseases with an incidence of about 1:100,000-1:200,000 live births worldwide. Here we report the beta-galactosidase gene (GLB1) mutation analysis of 21 unrelated GM1 gangliosidosis patients, and of 4 Morquio B patients, of whom two are brothers. Clinical features of the patients were...

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PMID: 21497194
DOI: 10.1016/j.bbadis.2011.03.018
PMCID: PMC3210552

Genes

GLB1

Variants

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