N‐acetylaspartic aciduria due to aspartoacylase deficiency — a new aetiology of childhood leukodystrophy
- 11 November 1986
- journal article
- case report
- Published by Wiley in Journal of Inherited Metabolic Disease
- Vol. 10 (2), 135-141
- https://doi.org/10.1007/bf01800038
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
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