N-acetylaspartylglutamate in Canavan disease: an adverse effector?
We measured N-acetylaspartate and its precursor/product N-acetylaspartylglutamate (NAAG) in urine of patients with Canavan disease using capillary zone electrophoresis. Abnormal levels of NAAG were found in 32 of 43 patients examined. Elevated NAAG was also present in the CSF of one patient. Given that NAAG may interfere with N-methyl-D-aspartate receptor function, the occurrence of high levels of NAAG in patients' urine conceivably represents a participating factor in the pathogenesis of Canavan disease.


CONCLUSIONS
The biochemical role of N-acetylaspartylglutamate and its relationship to glutamatergic function may be relevant to the pathogenesis of Canavan disease.
Burlina
A P
AP
Centro di Ricerca Biomedica, Castelfranco Veneto, Italy. burlina@child.pedi.unipd.it
Ferrari
V
V
Divry
P
P
Gradowska
W
W
Jakobs
C
C
Bennett
M J
MJ
Sewell
A C
AC
Dionisi-Vici
C
C
Burlina
A B
AB
D000293:Adolescent; D017825:Canavan Disease / Q000134:cerebrospinal fluid / Q000652:urine*; D002648:Child; D002675:Child, Preschool; D004151:Dipeptides / Q000134:cerebrospinal fluid / Q000652:urine*; D019075:Electrophoresis, Capillary; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D009479:Neuropeptides / Q000134:cerebrospinal fluid / Q000652:urine*
D004151:Dipeptides; D009479:Neuropeptides; C027172:isospaglumic acid