不客气！Alpha-galactosidase defect也搞得很清楚得了

好几年前有位Fabry's disease专家在医院给talk时就说enzyme replacement要出来了。真的很快由Genzyme公司推出。一年费用是5万美元以上这个数量级。终身服药。是孤儿药，不然没人做。

http://en.wikipedia.org/wiki/Alpha-galactosidase

A variety of mutations in this gene affect the synthesis, processing, and stability of this enzyme, which causes Fabry's disease, a rare lysosomal storage disorder and sphingolipidosis that results from a failure to catabolize alpha-D-galactosyl glycolipid moieties.[2]

Two enzyme replacement therapies are available to functionally compensate for alpha-galactosidase deficiency. Agalsidase alpha and beta are both recombinant forms of the human α-galactosidase A enzyme and both have the same amino acid sequence as the native enzyme. Agalsidase alpha and beta differ in the structures of their oligosaccharide side chains.[3]