" /> Canavan disease - CISMeF





Preferred Label : Canavan disease;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Aspa deficiency; Aminoacylase 2 deficiency; Asp deficiency; Aspartoacylase deficiency; Canavan-van bogaert-bertrand disease; Spongy degeneration of central nervous system; Acy2 deficiency;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutations in the aspartoacylase gene (ASPA, 271900.0001);

Laboratory abnormalities : Spongy degeneration of brain on histology; Increased N-acetyl-L-aspartic acid (NAA) in urine, CSF, and blood; Reduced aspartoacylase activity in cultured skin fibroblasts;

Prefixed ID : #271900;

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24/07/2025


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