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Article

Mutational analysis of the GLA gene in Mexican families with Fabry disease.

Journal of genetics - 1 Mar 2017

Gutiérrez-Amavizca Bianca Ethel, Gal Andreas, Ortíz-Orozco Rocío, Orth Ulrich, Prado Montes De Oca Ernesto, Gutiérrez-Amavizca Jaime Paul, Figuera Luis E

Abstract excerpt

Fabry disease (FD) is a lysosomal storage disorder, which develops due to a deficiency in the hydrolytic enzyme, α-galactosidase A (α-Gal A). Alpha-Gal A hydrolyzes glycosphingolipid globotriaosylceramide (Gb3), and an α-Gal A deficiency leads to Gb3 accumulation in tissues and cells in the body. This pathology is likely to involve multiple systems, but it is generally considered to affect primarily vascular...

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Identifiers

PMID: 28360401
DOI: 10.1007/s12041-017-0744-4

Genes

GLA

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