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Neuropediatrics 1990; 21(3): 140-142
DOI: 10.1055/s-2008-1071481
Original article

© Georg Thieme Verlag KG Stuttgart · New York

N-Acetylaspartic Aciduria in Canavan Disease: Another Proof in Two Infants

K.  Yalaz , M.  Topçu , H.  Topaloğlu , Ö.  Gürçay , O. E. Özcan , B.  Önol , Y.  Renda
  • Departments of Pediatric Neurology, Pathology and Neurosurgery, Hacettepe University Children's Hospital, Ankara, Turkey
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Publication History

Publication Date:
19 March 2008 (online)

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Abstract

Increased amounts of urinary N-acetylaspartic 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 hyperlucency at CT scan.

Key words

N-acetylaspartic aciduria - Canavan disease - Spongy degeneration of brain

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