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Article

Canavan disease: diagnosis and molecular analysis.

Genetic testing - 1 Jan 1997

Matalon R

Abstract excerpt

Canavan disease, spongy degeneration of the brain, is an autosomal recessive disorder with increased prevalence among Ashkenazi Jews. The biochemical marker for this disease is increased levels of N-acetylaspartic acid, due to the defective enzyme, aspartoacylase. This discovery allowed for accurate diagnosis of the disease. The gene for aspartoacylase has been cloned and two mutations have been found to be...

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Identifiers

PMID: 10464621
DOI: 10.1089/gte.1997.1.21

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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