Quantification of Arylsulfatase B Activity and Diagnosis of Maroteaux-Lamy Syndrome

Arylsulfatase B活性之定量及Maroteaux-Lamy症候羣之診斷

胡務亮(Wuh-Liang Hwu) ； 王作仁(Tso-Ren Wang)

《Acta Paediatrica Sinica》 32卷5期 (1991/10) Pp. 280-285

摘要

粘多醣症是一羣遺傳性的溶酶體貯積症，其中的每一種疾病均缺乏某一種特殊的分解胺基醣類的酵素，也有其特有的臨床表現。粘多醣症的確實診斷必需靠酵素的分析。我們成功的測定N-acetyl-galactosamine-4-sulfatase(arylsulfatase B)的活性，其方法是用p-nitrocatechol sulfate作反應物，並用鋇監來抑制arylsulfatase A的活性。利用這個方法，我們成功的診斷一例Maroteaux-Lamy症候羣（粘多糖症第六型）。這個六歲的女童角膜渾濁，臉型粗大，但是身高及智能均正常。她的尿液中有大量的Dermatan sulfate，血液白血球有異染性的顆粒。其皮膚纖維芽細胞Arylsulfase B活性只有正常人的百分之五左右。如果沒有酵素的定量，此種輕型Maroteaux-Lamy症候羣的診斷是非常困難的。

並列摘要

Mucopolysaccharidoses (MPS) are a group of inherited lysosomal storage disorders, each with deficiency of an enzyme degrading glycosaminoglycans (GAG). To increase the ability to differentiate each of the disorders, the N-acetyl-galactosamine4-sulfatase (arylsulfatase B) activity was measured in human peripheral leukocytes and skin fibroblasts. The assay employed p-nitrocatechol sulfate as an artificial substrate, and barium salt as an inhibitor to arylsulfatase A. Applying this method, a case of Maroteaux-Lamy syndrome (MPS type VI) was recognized in a six-year old girl who had cloudy cornea, coarse-appearing face, mucopolysacchariduria, and white cell metachromasia. Her body height and mentality were normal, Arylsulfatase B activity in her skin fibroblasts was around 5% of normal, Diagnosis of MPS VI, especially in its milder form, depends on enzyme test.

並列關鍵字

mucopolysaccharidosis ； arylsulfatase B ； Maroteaux-Lamy syndrome