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

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

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.

Publication types

  • Case Reports

MeSH terms

  • Amidohydrolases / deficiency*
  • Aspartic Acid / analogs & derivatives*
  • Aspartic Acid / urine
  • Biopsy
  • Brain Diseases, Metabolic / genetics*
  • Brain Diseases, Metabolic / pathology
  • Diffuse Cerebral Sclerosis of Schilder / genetics*
  • Diffuse Cerebral Sclerosis of Schilder / pathology
  • Frontal Lobe / pathology
  • Humans
  • Infant
  • Male
  • Muscle Hypotonia / genetics*
  • Muscle Hypotonia / pathology
  • Nerve Degeneration / physiology

Substances

  • Aspartic Acid
  • N-acetylaspartate
  • Amidohydrolases
  • aspartoacylase