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;