Spongy degeneration of the neuraxis (Canavan-van Bogaert disease) and N-acetylaspartic aciduria.
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.
Echenne
B
B
Unité de Neuropédiatrie, Centre Gui de Chauliac, Montpellier, France.
Divry
P
P
Vianey-Liaud
C
C
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
D001224:Aspartic Acid; C000179:N-acetylaspartate