Peer-reviewed veterinary case report
The pathogenesis of, and pharmacological treatment for, Canavan disease.
- Journal:
- Drug discovery today
- Year:
- 2022
- Authors:
- Wei, Huijun et al.
- Affiliation:
- Johns Hopkins University School of Medicine · United States
Abstract
Canavan disease (CD) is an inherited leukodystrophy resulting from mutations in the gene encoding aspartoacylase (ASPA). ASPA is highly expressed in oligodendrocytes and catalyzes the cleavage of N-acetylaspartate (NAA) to produce aspartate and acetate. In this review, we examine the pathologies and clinical presentation in CD, the metabolism and transportation of NAA in the brain, and the hypothetical mechanisms whereby ASPA deficiency results in dysmyelination and a failure of normal brain development. We also discuss therapeutic options that could be used for the treatment of CD.
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Search related cases →Original publication: https://pubmed.ncbi.nlm.nih.gov/35636725/