Biochemical heterogeneity of infantile central nervous system spongy degeneration.

摘要: Aspartoacylase, the enzyme whose activity is deficient in infantile central nervous system spongy degeneration (Canavan-Van Bogaert-Bertrand disease), detected as an approximately 59-kD protein Sephadex G-200 filtration of normal fibroblast extracts. The homogenates fibroblasts protected by leupeptin, a protease inhibitor. In absence 90% aspartoacylase lost. some patients with degeneration, no (less than 2%) can be detected. other residual fibroblasts, two separate peaks are eluted molecular weight corresponding to 59 and 19 kD. Aspartoacylase this latter group same extent presence leupeptin. However, elution independent This study indicates biochemical heterogeneity pathogenesis degeneration.