title: Spongy degeneration of the neuraxis (Canavan-van Bogaert disease) and N-acetylaspartic aciduria.
abstract: Urinary excretion of an abnormal amount of N-acetylaspartic acid has been evident in a 17-month-old child with an infantile picture of Canavan-van Bogaert disease. This observation makes it possible to consider the possibility of a simple biological diagnosis and confirms the existence of metabolic abnormalities which will probably permit to make rapid progress in the physiopathologic study of this disease.
authors.affiliation: Unité de Neuropédiatrie, Centre Gui de Chauliac, Montpellier, France.
authors.forename: B
authors.initials: B
authors.lastname: Echenne
authors.forename: P
authors.initials: P
authors.lastname: Divry
authors.forename: C
authors.initials: C
authors.lastname: Vianey-Liaud
mesh_terms: D001224:Aspartic Acid / Q000031:analogs & derivatives* / Q000652:urine; D001706:Biopsy; D001927:Brain Diseases / Q000175:diagnosis* / Q000235:genetics / Q000652:urine; D003937:Diagnosis, Differential; D006801:Humans; D007223:Infant
chemical_list: D001224:Aspartic Acid; C000179:N-acetylaspartate