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

被引：24

作者：

Baydakova, G., V ^{[1
]}

Ilyushkina, A. A. ^{[1
]}

Moiseev, S. ^{[3
]}

Bychkov, I. O. ^{[1
]}

Nikitina, N., V ^{[2
]}

Buruleva, T. A. ^{[4
]}

Zakharova, E. Y. ^{[1
]}

机构：

[1] Res Ctr Med Genet, Fed State Budgetary Inst, Moscow, Russia

[2] Clin Diagnost Ctr Maternal & Child Hlth, Ekaterinburg, Russia

[3] Sechenov First Moscow State Med Univ, Moscow, Russia

[4] City Clin Hosp 52, Moscow, Russia

来源：

CLINICA CHIMICA ACTA | 2020年 / 501卷

关键词：

Biochemical markers; Inherited metabolic diseases; Lysosomal disorders; Fabry disease; GLA gene; Globotriaosylsphingosine; PLASMA GLOBOTRIAOSYLSPHINGOSINE; CLINICAL-MANIFESTATIONS; STORAGE DISORDERS; CARDIAC VARIANT; LYSO-GB3; BIOMARKERS; PHENOTYPES;

D O I：

10.1016/j.cca.2019.10.031

中图分类号：

R446 [实验室诊断]; R-33 [实验医学、医学实验];

学科分类号：

1001 ;

摘要：

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 alpha-galactosidase A (alpha-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 alpha-Gal A activity. The globotriaosylsphingosine (lysoGb3) is described as a more sensitive diagnostic biomarker for females with pathogenic mutation in the GLA gene. Thus, the aim of this study is to improve the biochemical diagnostic efficiency for FD in females. Here we report the alpha-Gal A/lysoGb3 ratio as the novel biochemical criteria for diagnosis of female patients with FD, using dried blood spots (DBS) as test samples. It showed 100% sensitivity in distinguishing our group of 35 female patients from control (n = 140). Whereas measurement of alpha-Gal A and lysoGb3 alone showed 8.6% and 74.4% respectively. A new approach of using the ratio of alpha-Gal A activity to lysoGb3 concentration in DBS may provide a more accurate screening tool for identification of FD females.

引用

页码：27 / 32

页数：6

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