Article

Therapeutic Options in Prevention and Treatment of Aspartoacylase Gene Mutation Resulting Abnormalities in Canavan Disease.

2004-03-01

Abstract excerpt

Canavan disease (CD) is an autosomal recessive disorder, caused by mutations in the aspartoacylase gene resulting enzyme deficiency. Patients with CD have accumulation of NAAG and NAA in the brain resulting elevated urinary NAAG and NAA. Aspartoacylase gene mutation in the mouse led to multiple genomic abnormalities. Pathophysiological processes implicated in CD include spongy degeneration of the brain possibly by...

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Literature Corpus work: 62f0b4b3-23f2-55bd-bff8-7ee55011169d
DOI: 10.2174/1570160043476141

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