| 单词 | Ceramide trihexosidase deficiency |
| 释义 |
Ceramide trihexosidase deficiency
中文百科
法布瑞氏症 Fabry disease（重定向自Ceramide trihexosidase deficiency）
    法布瑞氏症（英语：Fabry disease，Fabry's disease，或Anderson-Fabry disease），一种X染色体上基因异常导致的遗传性疾病。因体内负责制造α-galactosidase（a-GAL）酵素的基因缺陷，造成体内糖神经胺醇脂质（glycosphingolipid）无法代谢，不断堆积在细胞质及溶体中，而引发多处器官病变，严重时可能造成死亡。它的命名来自于它的发现者之一，乔纳斯·法布瑞（Johannes Fabry）。
英语百科
Fabry disease 法布瑞氏症（重定向自Ceramide trihexosidase deficiency）
 Fabry disease (/ˈfɑːbri/) (also known as Fabry's disease, Anderson-Fabry disease, angiokeratoma corporis diffusum, and alpha-galactosidase A deficiency) is a rare genetic lysosomal storage disease, inherited in an X-linked manner. Fabry disease can cause a wide range of systemic symptoms. It is a form of sphingolipidosis, as it involves dysfunctional metabolism of sphingolipids. The disease is named after one of its discoverers, Johannes Fabry (June 1, 1860 – June 29, 1930). |
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