那是這個？ 這和牛奶無關呀？

Introduction

Human β-d-galactosidase (EC 3.2.1.23, β-Gal) is a lysosomal enzyme that catalyzes the hydrolysis of terminal β-galactose residues from various substrates, including ganglioside GM13 and keratan sulfate (1,–,3). Defects in and dysfunction of β-Gal are responsible for the metabolic storage disorders GM1 gangliosidosis and Morquio B, in which ganglioside GM1 and keratan sulfate, respectively, accumulate in the cell (4,–,6). GM1 gangliosidosis is a severe neurological disease that is classified into three major types (types I, II, and III) with respect to the age of onset and severity (7). Morquio B patients show dwarfism and skeletal abnormalities (7). GM1 gangliosidosis and Morquio B are rare disorders, and the estimated incidence of GM1 gangliosidosis is 1:100,000–200,000 live births. On the other hand, the estimated incidence of Morquio B covers a wide range, from 1 case per 75,000 births in Northern Ireland to 1 case per 640,000 births in Western Australia (8).

The mechanisms by which these two disorders are caused have not been fully clarified. From patients with different ethnic backgrounds, a variety of mutations have been identified (9). β-Gal activity is almost lost in patients with severe infantile GM1 (type I) (

所有跟帖： 

• 謝謝！容我再查閱一些資料。 -禦用文人- ♀ (0 bytes) () 09/24/2014 postreply 20:23:46

• 不客氣！Alpha-galactosidase defect也搞得很清楚得了 -誌在千裏- ♀ (968 bytes) () 09/25/2014 postreply 05:26:00