Canavan disease (CD) is an autosomal recessive leukodystrophy characterized by spongy degeneration of the white matter of the brain (1,2). Deficiency of the enzyme Aspartoacylase (ASPA) was found to be the basic defect in Canavan disease (3). Aspartoacylase hydrolyzes ^-acetyl aspartate (NAA) to aspartate and acetate (4). The deficiency of ASPA leads to accumulation of NAA in the brain and other tissues of patients with Canavan disease (5). The clinical features of the disease include

Department of Pediatrics, University of Texas Medical Branch, Galveston, TX 77555; Stephen K. Tyring Department of Dermatology, University of Texas Health Science Center, Houston, TX 77030. Corresponding author: Dr. Reuben Matalon, Pediatrics, Childrens Hospital, UTMB, Galveston, TX 775550359. Tel: 409 772 3453, Fax: 409 772 9595, e-mail: [email protected].

psychomotor retardation, megalencephaly and hypotonia (2). Abnormalities in the brain of patients with CD include spongy degeneration with swollen astrocytes and elongated mitochondria (1,2,6-8). Aspartoacylase gene has been cloned and mapped to the 17p13-ter region (9). Although CD is observed in various ethnic groups, the disease is most prevalent in Ashkenazi Jewish population (10-19).

Treatment for CD is symptomatic at this time. Treatment with acetazolamide for 5 months reduced the intracranial pressure and did not affect the water concentration and NAA level (20). Aspartoacylase gene transfer into the brain of two children with CD reduced NAA accumulation, but long term follow up is lacking (21).

Was this article helpful?

0 0

Post a comment