Clinica Chimica Acta (IF 2.735, Q2) published an article by the FSBI RCMG researchers on the potential marker of Fabry disease

Clinica Chimica Acta (IF 2.735, Q2) published an article by the FSBI RCMG Hereditary Metabolic Diseases Laboratory researchers (the Lab Head is E.Yu. Zakharova, Doctor of medical science):

α-Galactosidase A/lysoGb3 ratio as a potential marker for Fabry disease in females.

Baydakova G.V., Ilyushkina A.A, Moiseev S., Bychkov I.O., Nikitina N.V., Buruleva Т.А., Zakharova E.Y. Clinica Chimica Acta. 2020. Vol. 501, P. 27-32
 

Fabry Disease (MIM: 301500) - X-linked lysosomal storage disease caused by mutations in the GLA gene. Insufficient activity of the lysosomal enzyme α-galactosidase A (α-Gal A), encoded by the GLA gene, leads to excessive accumulation of glycosphingolipids in the cells of many organs.

Female patients are difficult to diagnose. Due to unequal X-inactivation, milder clinical manifestations and normal α-Gal A activity are possible, as identified by the fluorimetric method. Globotriaosylsphingosine (lysoGb3) has been described as a sensitive diagnostic biomarker for identifying patients with Fabry disease.

The Hereditary Metabolic Diseases Laboratory researchers found that the α-Gal A / lysoGb3 ratio is more sensitive as a new biochemical criterion for diagnosing females with Fabry disease. 
 
Clinica Chimica Acta 2020 February https://doi.org/10.1016/j.cca.2019.10.031