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

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.
Authors	K Yalaz, M Topçu, H Topaloğlu, O Gürçay, O E Ozcan, B Onol, Y Renda
Journal	Neuropediatrics (Neuropediatrics) Vol. 21 Issue 3 Pg. 140-2 (Aug 1990) ISSN: 0174-304X [Print] Germany
PMID	2234319 (Publication Type: Case Reports, Journal Article)
Chemical References	Aspartic Acid N-acetylaspartate Amidohydrolases aspartoacylase
Topics	Amidohydrolases (deficiency) Aspartic Acid (analogs & derivatives, urine) Biopsy Brain Diseases, Metabolic (genetics, pathology) Diffuse Cerebral Sclerosis of Schilder (genetics, pathology) Frontal Lobe (pathology) Humans Infant Male Muscle Hypotonia (genetics, pathology) Nerve Degeneration (physiology)

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