Article
Biochemical heterogeneity of infantile central nervous system spongy degeneration.
Journal of child neurology - 1 Apr 1992
Subramanyam S B, Tipirneni A, Youssef N, Gascon G G, Ozand P T
Abstract excerpt
Aspartoacylase, the enzyme whose activity is deficient in infantile central nervous system spongy degeneration (Canavan-Van Bogaert-Bertrand disease), is detected as an approximately 59-kD protein in the Sephadex G-200 filtration of normal fibroblast extracts. The enzyme activity in homogenates of fibroblasts is protected by leupeptin, a protease inhibitor. In the absence of leupeptin, 90% of aspartoacylase...
Topics
- Amidohydrolases
- Amino Acid Metabolism, Inborn Errors
- Brain Diseases, Metabolic
- Female
- Fibroblasts
- Humans
- Infant
- Male
- Phenotype
- Reference Values