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Article

Expression of aspartoacylase (ASPA) and Canavan disease.

Gene - 1 Sept 2012

Sommer Anke, Sass Jörn Oliver

Abstract excerpt

Canavan disease (CD) is a neurodegenerative disorder usually presenting in the first six months of life. CD patients can be identified via elevated levels of N-acetyl-l-aspartate in the pattern of urinary organic acids assessed by gas chromatography-mass spectrometry. They are characterized by deficiency of aspartoacylase (aminoacylase 2; ASPA) due to mutations in the ASPA gene. Information on the molecular basis...

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Source

Identifiers

PMID: 22750302
DOI: 10.1016/j.gene.2012.06.036

Genes

ASPA

Variants

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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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