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

L. Hagenfeldt; I. Bollgren; N. Venizelos

doi:10.1007/bf01800038

journal article Nov 11, 1986

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

L. Hagenfeldt I. Bollgren N. Venizelos

Journal of Inherited Metabolic Disease Vol. 10 No. 2 pp. 135-141 · Wiley

View at Publisher Save 10.1007/bf01800038

Abstract

AbstractWe 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.

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References

Details

Published: Nov 11, 1986
Vol/Issue: 10(2)
Pages: 135-141
License: View

Authors

L

L. Hagenfeldt

Department of Clinical Chemistry Karolinska Hospital Stockholm S‐104 01 Sweden

I

I. Bollgren

Department of Paediatrics Sachs' Children's Hospital, Karolinska Institute Stockholm Sweden

N

N. Venizelos

Department of Clinical Chemistry Karolinska Hospital Stockholm S‐104 01 Sweden

Cite This Article

L. Hagenfeldt, I. Bollgren, N. Venizelos (1986). N‐acetylaspartic aciduria due to aspartoacylase deficiency — a new aetiology of childhood leukodystrophy. Journal of Inherited Metabolic Disease, 10(2), 135-141. https://doi.org/10.1007/bf01800038

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

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