Fabry disease
This interpretation of results indicating that the patient may have an inherited metabolic disease can be used as additional information when you have consultations with doctors. Please read the following information carefully.
GLA
法布瑞氏症 疾病介紹及衛教
法布瑞氏症是一種罕見的遺傳性溶小體儲積症，致病原因為X染色體上的GLA基因變異所致，此基因主要負責製造α-galactosidase(簡稱α-GAL)酵素。當體內缺乏此酵素時，會使得醣脂質，尤其是globotriaosylceramide(簡稱GL-3或Gb-3)無法被代謝