Article
α-Galactosidase A/lysoGb3 ratio as a potential marker for Fabry disease in females.
Clinica chimica acta; international journal of clinical chemistry - 1 Feb 2020
Baydakova G V, Ilyushkina A A, Moiseev S, Bychkov I O, Nikitina N V, Buruleva Т А, Zakharova E Y
Abstract excerpt
Fabry disease (FD [MIM:301500]) is an X-linked lysosomal storage disorder caused by mutations in the GLA gene. Deficient activity of its product, lysosomal enzyme α-galactosidase A (α-Gal A), leads to excessive accumulation of glycosphingolipids in cells of multiple organs. The establishing of the diagnosis is challenge in female patients because of milder clinical manifestation and normal α-Gal A activity. The...
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