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N-acetylaspartic aciduria in Canavan disease: another proof in two infants
K Yalaz1, M Topçu, H Topaloğlu
1Department of Pediatric Neurology, Hacettepe University Children's Hospital, Ankara, Turkey.
Neuropediatrics
|August 1, 1990
Abstract:
Increased amounts of urinary N-acetyl-aspartic acid was found in two infants with biopsy proven Canavan disease. The aspartoacylase assay is a new tool for determining both the prenatal and antenatal diagnosis of Canavan disease. This assay should be screened in patients with early onset of psychomotor deterioration, macrocephaly, spasticity/hypotonia and white matter hyperleucency at CT scan.