Spongy degeneration of the brain, canavan disease

R. Matalon, K. Michals, R. Kaul, M. Mafee

Research output: Contribution to journalReview article

14 Scopus citations

Abstract

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 languageEnglish (US)
Pages (from-to)121-124
Number of pages4
JournalInternational Pediatrics
Volume5
Issue number2
StatePublished - Dec 1 1990
Externally publishedYes

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health

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  • Cite this

    Matalon, R., Michals, K., Kaul, R., & Mafee, M. (1990). Spongy degeneration of the brain, canavan disease. International Pediatrics, 5(2), 121-124.