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Journal of Inherited Metabolic Disease

, Volume 10, Issue 2, pp 135–141 | Cite as

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

  • L. Hagenfeldt
  • I. Bollgren
  • N. Venizelos
Article

Abstract

We describe a male infant with psychomotor retardation and leukodystrophy who excretes large quantities ofN-acetylaspartate in his urine. A high CSF/plasma concentration ratio ofN-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 ofN-acetylaspartate to serve as a carrier of acetyl groups from mitochondria to the cytosol for lipogenesis.

Keywords

Public Health Internal Medicine Cytosol Metabolic Disease Acetyl 
These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.

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Copyright information

© SSIEM and MTP Press Limited 1987

Authors and Affiliations

  • L. Hagenfeldt
    • 1
  • I. Bollgren
    • 2
  • N. Venizelos
    • 1
  1. 1.Department of Clinical ChemistryKarolinska HospitalStockholmSweden
  2. 2.Department of PaediatricsSachs' Children's Hospital, Karolinska InstituteStockholmSweden

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