[Organic aciduria in Canavan disease].
3 male and 2 female infants with Canavan disease proven in some by brain biopsy, whose symptoms appeared within the first 4 months of life, are presented. Urinary organic acids were analyzed by gas chromatography/mass spectrometry. All excreted large amounts of N-acetylaspartic acid, probably secondary to decreased activity of its hydrolase. The pathogenetic mechanism is not well understood. Analysis of urinary organic acids can replace brain biopsy in the diagnosis of this condition, and the diagnosis can now be made prenatally.
Elpeleg
O N
ON
Amir
N
N
Glick
B
B
Gross-Tzur
V
V
Zelnik
N
N
Tamiri
Z
Z
D000143:Acids / Q000652:urine*; D001224:Aspartic Acid / Q000031:analogs & derivatives / Q000652:urine; D003711:Demyelinating Diseases / Q000652:urine*; D005260:Female; D006801:Humans; D007223:Infant; D008064:Lipidoses / Q000652:urine*; D008297:Male
D000143:Acids; D001224:Aspartic Acid; C000179:N-acetylaspartate