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. 1990 Feb;35(2):266-8.
doi: 10.1002/ajmg.1320350224.

Aspartoacylase Deficiency and Canavan Disease in Saudi Arabia


Aspartoacylase Deficiency and Canavan Disease in Saudi Arabia

P T Ozand et al. Am J Med Genet. .


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.

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