Aspartoacylase deficiency and Canavan disease in Saudi Arabia

摘要: 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 biopsy. The ranged between 1 and 13% two groups control individuals, normals, those other leukodystrophies. present report confirms study Matalon et al. [1988] a totally different ethnic group provides independent verification that is first documented specific biochemical marker Canavan disease plays an important role pathogenesis. Considering only some 75 cases had been reported up to 1982, our 12, accumulated within 3 years, inordinately large suggests Saudi Arabia promising venue which molecular genetics disease.