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Case Reports
. 1990 Aug;21(3):140-2.
doi: 10.1055/s-2008-1071481.

N-acetylaspartic aciduria in Canavan disease: another proof in two infants

K Yalaz  1 , M Topçu, H Topaloğlu, O Gürçay, O E Ozcan, B Onol, Y Renda
Affiliations
Case Reports

N-acetylaspartic aciduria in Canavan disease: another proof in two infants

K Yalaz et al. Neuropediatrics. 1990 Aug.

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.

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