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Fabry病（法布里病）是X染色体连锁隐性遗传的溶酶体贮积病，其发病机制为编码α半乳糖苷酶A的GLA基因发生突变，导致患者血浆α半乳糖苷酶A的活性部分或全部消失，从而引起神经酰胺三己糖苷为主的鞘糖脂类物质不能分解而聚集各种细胞内，造成各脏器功能受损。其中神经系统损害包括小纤维神经病及脑血管疾病等，对于不明原因的神经疼痛和早发脑卒中患者应考虑Fabry病的可能，以期早期诊治。“,”Fabry disease, as an X-linked recessive inheritance lysosomal storage disease, results from mutations in the GLA gene that encodes the lysosomal enzyme α-galactosidase A caused reduction of the enzyme activity which then leads to the accumulation of glycosphingolipid ,predominantly globotriaosylceram-ide(Gb3),within multiple cells,causing multiorgan lesions.The impairment of nervous system ranges from small fiber neuropathy to cerebrovascular disorders,and the possibility of Fabry disease should always be con-sidered in the case of unexplained peripheral neuropathic pains and stroke at young age ,in order to achieve early diagnosis and treatment.