Sergi Bruno, Conti Guido
Clinic of Otorhinolaryngology, Catholic University of Scared Heart of Rome, Largo F Vito 1, 00168, Rome, Italy.
J Inherit Metab Dis. 2007 Jun;30(3):370-4. doi: 10.1007/s10545-007-0523-0. Epub 2007 May 9.
Fabry disease is an inborn error of metabolism due to deficient activity of the lysosomal enzyme alpha-galactosidase A. The enzyme defect leads to the systemic accumulation of neutral glycosphingolipids in tissues. Otological manifestations consist of hearing loss and mild vestibular disorders. In this report we describe a family of five members affected by Fabry disease with four subjects showing inner ear involvement.
法布里病是一种由于溶酶体酶α-半乳糖苷酶A活性缺乏导致的先天性代谢紊乱。该酶缺陷导致中性糖鞘脂在组织中系统性蓄积。耳部表现包括听力损失和轻度前庭功能障碍。在本报告中，我们描述了一个五口之家受法布里病影响，其中四名受试者存在内耳受累情况。
