发病机制:AFD系α‐半乳糖苷酶A缺乏(α‐galactosidase Adeficiency)疾病,是X‐联隐性遗传的溶媒体贮积病(lysosomalstoragedisorder)。Alpha‐半乳糖苷酶(alpha‐galactosi dase A,‐Gal A.也称为神经酰胺三己糖苷酶(ceramidetrihexosidase),‐Gal A活性缺乏造成神经酰胺三己糖苷(globotriaosylceramide或称ceramidetrihexoside)和相关糖鞘脂(glyco sphingo ......