Background: Anderson-Fabry disease (AFD) is an X-linked lysosomal storage disorder caused by a deficiency of α-galactosidase(α-Gal A). Currently, genetic sequencing is the only valid tool for the diagnosis of female AFD patients, since enzyme activity in female heterozygotes can be in the normal range. In this study, we thus examined whether plasma level of globotriaosylsphingosine (Lyso-Gb3) is useful for diagnosis of AFD. Methods and Results: Among 351 patients with left ventricular hypertrophy(LVH) from January 2004 to July 2016 (64 ± 14[SD] year-old, 117 female), 9 (2.5%) (54 ± 5 year-old, 6 females) were diagnosed as having AFD by cardiac biopsy, and other 6 patients without LVH by gene sequencing. Thus, we examined a total of 15 AFD patients (11 females, 7 families, 4 mutations). All AFD patients showed increased Lyso-Gb3 level (11.6 ± 3.1 ng/mL, n = 15) compared with non-AFD controls (0.4 ± 0.04 ng/mL, n = 46) (P < .0001). In 2 cases of female heterozygotes with normal α-Gal activity and elevated Lyso-Gb3, Lyso-Gb3 level was a reliable marker for the diagnosis of AFD. Lyso-Gb3 level was extremely high in male patients and high in classical female heterozygotes. Lyso-Gb3 level in 7 female heterozygotes with the same mutation (R301Q variants) was within the same range. Conclusions: These results indicate that plasma Lyso-Gb3 level is useful to diagnose AFD.
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