Canavan disease (CD) is a rare leukodystrophy primarily affecting infants.
The molecular cause of CD is mutations of the gene encoding aspartoacylase (ASPA).
Functional deficiency of ASPA causes brain N-acetyl-L-aspartic acid accumulation.
The aetiopathogenesis and treatment of CD are reviewed.
Potential and limitations of non-genetic approaches to the treatment of CD are discussed.