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词汇 Fabry disease
分类 英语词汇 英语翻译词典
释义

Fabry disease

中文百科

法布瑞氏症

A bilateral, whorl-like corneal pattern of cream -colored lines in a patient with Fabry disease
Angiokeratoma, a common dermatological manifestation in Fabry sufferers

法布瑞氏症英语:Fabry diseaseFabry'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

A bilateral, whorl-like corneal pattern of cream -colored lines in a patient with Fabry disease
Angiokeratoma, a common dermatological manifestation in Fabry sufferers

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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