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N ‐acetylaspartic aciduria due to aspartoacylase deficiency — a new aetiology of childhood leukodystrophy
Author(s) -
Hagenfeldt L.,
Bollgren I.,
Venizelos N.
Publication year - 1987
Publication title -
journal of inherited metabolic disease
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.462
H-Index - 102
eISSN - 1573-2665
pISSN - 0141-8955
DOI - 10.1007/bf01800038
Subject(s) - leukodystrophy , medicine , endocrinology , psychomotor retardation , urine , chemistry , pathology , disease , alternative medicine
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.