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Fabry disease. A potential pitfall A family with a novel intronic mutation.

ABSTRACT: Fabry disease is a genetic disorder characterized by the accumulation of globotriaosylceramide in cell lysosomes resulting from an X-linked deficiency of ?-galactosidase A activity. It presents with multiorgan manifestations, including progressive renal disease, cardiomyopathy and premature demise. Recently, its prevalence has been reported to be higher in hemodialysis (HD) patients than in the general population. We report two cases of homozygous patients with an intronic alpha-galactosidase gene mutation and a classic phenotype of the disease. One of the patients had a kidney transplant and the donor was his brother, before Fabry disease were diagnose.

SUBMITTER: Cabrera G

PROVIDER: S-EPMC6129647 | biostudies-literature | 2018 Dec

REPOSITORIES: biostudies-literature

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Fabry disease. A potential pitfall A family with a novel intronic mutation.

Cabrera Gustavo G Perretta Fernando F

Molecular genetics and metabolism reports 20180908

Fabry disease is a genetic disorder characterized by the accumulation of globotriaosylceramide in cell lysosomes resulting from an X-linked deficiency of α-galactosidase A activity. It presents with multiorgan manifestations, including progressive renal disease, cardiomyopathy and premature demise. Recently, its prevalence has been reported to be higher in hemodialysis (HD) patients than in the general population. We report two cases of homozygous patients with an intronic alpha-galactosidase ge ...[more]

PMID: 30211005

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