N-acetylaspartic aciduria due to aspartoacylase deficiency--a new aetiology of childhood leukodystrophy

J Inherit Metab Dis. 1987;10(2):135-41. doi: 10.1007/BF01800038.

Abstract

We describe a male infant with psychomotor retardation and leukodystrophy who excretes large quantities of N-acetylaspartate in his urine. A high CSF/plasma concentration ratio of N-acetylaspartate indicates that this substance originates in the brain. Fibroblasts from the patient are deficient in aspartoacylase activity. It is proposed that the dysmyelination in the patient may be due to failure of N-acetylaspartate to serve as a carrier of acetyl groups from mitochondria to the cytosol for lipogenesis.

Publication types

  • Case Reports

MeSH terms

  • Amidohydrolases / deficiency*
  • Amino Acid Metabolism, Inborn Errors / diet therapy
  • Amino Acid Metabolism, Inborn Errors / etiology*
  • Amino Acid Metabolism, Inborn Errors / metabolism
  • Aspartic Acid / analogs & derivatives*
  • Aspartic Acid / urine
  • Brain / metabolism
  • Diffuse Cerebral Sclerosis of Schilder / diet therapy
  • Diffuse Cerebral Sclerosis of Schilder / etiology*
  • Diffuse Cerebral Sclerosis of Schilder / metabolism
  • Humans
  • Infant
  • Intellectual Disability / etiology
  • Intellectual Disability / metabolism
  • Male

Substances

  • Aspartic Acid
  • N-acetylaspartate
  • Amidohydrolases
  • aspartoacylase