Ozand P T, Gascon G G, Dhalla M
Department of Pediatrics, King Faisal Specialist Hospital and Research Centre, Riyadh, Kingdom of Saudi Arabia.
Am J Med Genet. 1990 Feb;35(2):266-8. doi: 10.1002/ajmg.1320350224.
We found defective aspartoacylase activity in fibroblasts cultured from 12 patients with leukodystrophy clinically diagnosed as spongy degeneration of the brain (Canavan disease), three confirmed by brain biopsy. The activity of aspartoacylase ranged between 1 and 13% of two groups of control individuals, normals, and those with other leukodystrophies. The present report confirms the study of Matalon et al. [1988] in a totally different ethnic group and provides independent verification that aspartoacylase activity is the first documented specific biochemical marker in Canavan disease and plays an important role in pathogenesis. Considering that only some 75 cases had been reported up to 1982, our group of 12, accumulated within 3 years, is inordinately large and suggests that Saudi Arabia provides a promising venue in which to study the biochemical and molecular genetics of Canavan disease.
我们发现，从12例临床诊断为脑海绵状变性（卡纳万病）的脑白质营养不良患者培养的成纤维细胞中，天冬氨酸酰基转移酶活性存在缺陷，其中3例经脑活检确诊。与两组对照个体（正常人和患有其他脑白质营养不良的人）相比，天冬氨酸酰基转移酶的活性在1%至13%之间。本报告在一个完全不同的种族群体中证实了马塔隆等人[1988年]的研究，并提供了独立验证，即天冬氨酸酰基转移酶活性是卡纳万病中首个有文献记载的特异性生化标志物，且在发病机制中起重要作用。考虑到截至1982年仅报道了约75例病例，我们在3年内积累的12例病例数量异常庞大，这表明沙特阿拉伯为研究卡纳万病的生化和分子遗传学提供了一个很有前景的场所。
