Spongy degeneration of the brain, Canavan disease, is an autosomal recessive leukodystrophy frequently found amongst Ashkenazi Jewish people. Excessive amounts of N-acetylaspartic acid in urine and other body fluids and deficiency of the enzyme aspartoacylase are the newly discovered biochemical markers for this disease. It is now possible to make the diagnosis of Canavan disease with certainty without the need for brain biopsy. This new information also allows for carrier testing and prenatal diagnosis. The purification of aspartoacylase will lead to the isolation of the gene for this enzyme, allowing for the use of molecular biology techniques as another tool for the diagnosis of Canavan disease.
|Original language||English (US)|
|Number of pages||4|
|State||Published - Dec 1 1990|
ASJC Scopus subject areas
- Pediatrics, Perinatology, and Child Health