title: Biochemical diagnosis of Canavan disease.
abstract: Canavan disease (CD) is a rare autosomal recessive disorder characterized by macrocephaly and progressive leukodystrophy. Up to now biopsy or necropsy were required to define the diagnosis. Recently the disease has been related to N-acetylaspartic aciduria and deficiency of aspartoacylase, an enzyme possibly involved in the myelin synthesis. These biochemical findings have provided a diagnostic marker for the disease. We report a new case of infantile CD in which the demonstration of N-acetylaspartic aciduria and a marked deficiency of aspartoacylase activity confirmed the diagnosis.
authors.affiliation: Istituto di Clinica Pediatrica, Università degli Studi di Siena, Italy.
authors.forename: G
authors.initials: G
authors.lastname: Bartalini
authors.forename: M
authors.initials: M
authors.lastname: Margollicci
authors.forename: P
authors.initials: P
authors.lastname: Balestri
authors.forename: M A
authors.initials: MA
authors.lastname: Farnetani
authors.forename: M
authors.initials: M
authors.lastname: Cioni
authors.forename: A
authors.initials: A
authors.lastname: Fois
mesh_terms: D000581:Amidohydrolases / Q000378:metabolism*; D001224:Aspartic Acid / Q000031:analogs & derivatives* / Q000378:metabolism; D015415:Biomarkers; D002675:Child, Preschool; D002549:Diffuse Cerebral Sclerosis of Schilder / Q000175:diagnosis / Q000378:metabolism*; D005260:Female; D006257:Head / Q000002:abnormalities*; D006801:Humans
chemical_list: D015415:Biomarkers; D001224:Aspartic Acid; C000179:N-acetylaspartate; D000581:Amidohydrolases; C019751:aspartoacylase