Search results for "LysoGb3"
showing 4 items of 4 documents
VALUTAZIONE DI ALCUNI BIOMARKERS DI STRESS OSSIDATIVO E DELLA FREQUENZA DEGLI APLOGRUPPI MITOCONDRIALI IN UNA POPOLAZIONE DI PAZIENTI CON MALATTIA DI…
2023
La malattia di Fabry comprende una estrema varietà fenotipica in relazione con il grande numero di organi e sistemi coinvolti. La diagnosi di malattia di Fabry è complessa a causa del numero di organi/sistemi coinvolti e dei fenotipi clinici non specifici e della sua rarità. La progressione clinica della malattia si manifesta tra i 30-40 anni quando per i numerosi organi coinvolti compaiono manifestazioni cliniche quali insufficienza cardiaca, renale ed eventi cerebrovascolari. La morte di solito sopraggiunge durante la quarta/quinta decade di vita ed è secondaria all’interessamento cardiaco, renale o cerebrale anche se l’avvento della dialisi e della terapia enzimatica sostitutiva stanno s…
Oxidative stress biomarkers in Fabry disease: is there a room for them?
2020
Abstract Background Fabry disease (FD) is an X-linked lysosomal storage disorder, caused by deficient activity of the alpha-galactosidase A enzyme leading to progressive and multisystemic accumulation of globotriaosylceramide. Recent data point toward oxidative stress signalling which could play an important role in both pathophysiology and disease progression. Methods We have examined oxidative stress biomarkers [Advanced Oxidation Protein Products (AOPP), Ferric Reducing Antioxidant Power (FRAP), thiolic groups] in blood samples from 60 patients and 77 healthy controls. Results AOPP levels were higher in patients than in controls (p < 0.00001) and patients presented decreased levels of…
High Variability of Fabry Disease Manifestations in an Extended Italian Family
2015
Fabry disease (FD) is an inherited metabolic disorder caused by partial or full inactivation of the lysosomal hydrolaseα-galactosidase A (α-GAL). The impairment ofα-GAL results in the accumulation of undegraded glycosphingolipids in lysosomes and subsequent cell and microvascular dysfunctions. This study reports the clinical, biochemical, and molecular characterization of 15 members of the same family. Eight members showed the exonic mutation M51I in the GLA gene, a disease-causing mutation associated with the atypical phenotype. The clinical history of this family highlights a wide phenotypic variability, in terms of involved organs and severity. The phenotypic variability of two male pati…
Mutations in the GLA Gene and LysoGb3: Is It Really Anderson-Fabry Disease?
2018
Anderson-Fabry disease (FD) is a rare, progressive, multisystem storage disorder caused by the partial or total deficit of the lysosomal enzyme &alpha