β-葡萄糖醛酸酶缺乏症的表型表达变异。

Variation in the phenotypic expression of beta-glucuronidase deficiency.

作者信息

Beaudet A L, DiFerrante N M, Ferry G D, Nichols B L, Mullins C E

出版信息

J Pediatr. 1975 Mar;86(3):388-94. doi: 10.1016/s0022-3476(75)80968-1.

Abstract

Defiency of beta-glucuronidase was demonstrated in serum, leukocytes, and cultured skin fibroblasts of two unrelated patients. One patient died at 2 9/12 years with a phenotype consistent with severe mucopolysaccharidosis; the other is 14 years of age and well, except for hypertension and obstructive lesions of large blood vessels. Analysis of urinary mucopolysaccharides revealed impaired degradation of dermatan sulfate and, to a lesser extent, of heparan sulfate. Cultured skin fibroblasts accumulated excess glycosaminoglycans (the term glycosaminoglycans is synonymous with acid mucopolysaccharides) as indicated by 35-SO-4 uptake.

摘要

在两名无亲缘关系的患者的血清、白细胞和培养的皮肤成纤维细胞中证实了β-葡萄糖醛酸酶缺乏。一名患者在2又9/12岁时死亡，其表型与严重的黏多糖贮积症一致；另一名患者14岁，身体健康，只是患有高血压和大血管阻塞性病变。对尿黏多糖的分析显示，硫酸皮肤素的降解受损，硫酸乙酰肝素的降解受损程度较轻。培养的皮肤成纤维细胞积累了过量的糖胺聚糖（糖胺聚糖一词与酸性黏多糖同义），这通过35-SO-4摄取得以表明。