Genetic testing for Fabry disease was positive (two heterozygous mutations), with decreased alpha galactosidase activity values and increased Lyso GB3
Shiga toxin binds to the host cell receptor Gb3
(globotriaosylceramide, [P.sup.k] blood group antigen).
Multiple studies have demonstrated that ERT effectively reduces Gb3
accumulation, improves anhidrosis, peripheral nerve function, gastrointestinal symptoms, and acroparesthesias, and can stabilize kidney function [8-12].
In Fabry disease, deficient activity of the enzyme, alpha-galactosidase A, results in the deposits of sphingolipid degradation Gb3
in lysosomes of various organs including the cornea [2, 5].
On light microscopy, glomeruli show a vacuolization of podocytes, mesangial or endothelial cells, and sometimes, glomerular parietal epithelial cells, due to Gb3
Fabry disease is an X-linked storage disease due to mutations in the GLA gene encoding the lysosomal enzyme [alpha]-galactosidase A, leading to the accumulation of enzyme substrates, namely, globotriaosylceramide (Gb3
), lyso-globotriaosylceramide (lyso-Gb3), and galabiosylceramide .
Fabry disease (FD) is caused by the lysosomal accumulation of complex glycosphingolipids, mainly globotriaosylceramide (Gb3
) and its metabolites .
Interestingly, and somehow discordant with the above findings, some differences in the expression of other genes from the same array, as the modest upregulation of HSP90, involved in maintaining the dimeric structure of eNOS  and of GLA, responsible for degradation of the eNOS uncoupler Gb3
, seemed to point out the activation of compensatory pathways possibly aimed to the preservation of the eNOS function.
The genotypes that predominated in previous seasons were not detected, such as GB1, GB3
, GA2, and GA5.
The GB grades (especially GB3
) performed very well, averaging 3-6% higher TSR values.
However, the cluster analysis applied to our data classified the participants GA3, GA4, GA6, GB2, GB3
, GB5 and GB7 players at the same group, and participants GA1, GA2, GA5, GA7, GB1, GB4 and GB6 in another group.
Fabry disease (FD) is a disease characterized by the pathological accumulation of glycosphingolipid Gb3
in some cells; it progresses with a lack of lysosomal alpha-galactosidase and is inherited in an X-linked recessive manner (1).