Biochemical diagnosis of Canavan disease

✍ Scribed by G. Bartalini; M. Margollicci; P. Balestri; M. A. Farnetani; M. Cioni; A. Fois

• Book ID: 104697679
• Publisher: Springer
• Year: 1992
• Tongue: English
• Weight: 261 KB
• Volume: 8
• Category: Article
• ISSN: 0256-7040
• DOI: 10.1007/bf00274411

✦ Synopsis

Canavan disease (CD) is a rare autosomal recessive disorder characterized by macrocephaly and progressive leukodystrophy. Up to now biopsy or necropsy were required to define the diagnosis. Recently the disease has been related to N-acetylaspartic aciduria and deficiency of aspartoacylase, an enzyme possibly involved in the myelin synthesis. These biochemical findings have provided a diagnostic marker for the disease. We report a new case of infantile CD in which the demonstration of N-acetylaspartic aciduria and a marked deficiency of aspartoacylase activity confirmed the diagnosis.