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


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.


Public Health Internal Medicine Cytosol Metabolic Disease Acetyl 
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  1. Alm, J. Hagenfeldt, L. and Larsson, A. Concentrations of organic acids in the urine of healthy newborn children.Ann. Clin. Biochem. 15 (1978) 245–249Google Scholar
  2. Birnbaum, S. M., Levintow, L., Kingsley, R. B. and Greenstein, J. P. Specificity of amino acid acylases.J. Biol. Chem. 194 (1952) 455–470Google Scholar
  3. Curtis, D. R. and Watkins, J. C. The excitation and depression of spinal neurons by structurally related amino acids.J. Neurochem. 6 (1960) 117–141Google Scholar
  4. D'Adamo, A. F. Jr., Gidez, L. I. and Yatsu, F. M. Acetyl transport mechanisms. Involvement ofN-acetyl aspartic acid inde novo fatty acid biosynthesis in the developing rat brain.Exp. Brain Res. 5 (1968) 267–273Google Scholar
  5. D'Adamo, A. F. Jr., Smith, J. C. and Woiler, C. The occurrence ofN-acetylaspartate amidohydrolase (aminoacylase II) in the developing rat.J. Neurochem. 20 (1973) 1275–1278Google Scholar
  6. D'Adamo, A. F. Jr. and Yatsu, F. M. Acetate metabolism in the nervous system.N-Acetyl-l-aspartic acid and the biosynthesis of brain lipids.J. Neurochem. 13 (1966) 961–965Google Scholar
  7. Goldstein, F. B. The enzymatic synthesis ofN-acetyl-l-aspartic acid by subcellular preparations.J. Biol. Chem. 244 (1969) 4257–4260Google Scholar
  8. Hartree, E. F. Determination of protein: a modification of the Lowry method that gives a linear photometric response.Anal. Biochem. 48 (1972) 422–427Google Scholar
  9. Jacobson, K. B. Studies on the role ofN-acetylaspartic acid in mammalian brain.J. Gen. Physiol. 43 (1957) 323–333Google Scholar
  10. Kvittingen E. A., Guldal, G., Børsting, S., Skalpe, I. O., Stokke, O. and Jellum, E.N-Acetylaspartic aciduria in a child with a progressive cerebral atrophy.Clin. Chim. Acta 158 (1986) 217–227Google Scholar
  11. McIntosh, J. C. and Cooper, J. R. Studies on the function ofN-acetyl aspartic acid in brain.J. Neurochem. 12 (1965) 825–835Google Scholar
  12. Nadler, J. V. and Cooper, J. R.N-Acetyl-l-aspartic acid content of human neural tumours and bovine peripheral nervous tissues.J. Neurochem. 19 (1972) 313–319Google Scholar
  13. Patel, T. B. and Clark, J. B. Synthesis ofN-acetyl-l-asparate by rat brain mitochondria and its involvement in mitochondrial/cytosolic carbon transport.Biochem. J. 184 (1979) 539–546Google Scholar
  14. Patel, T. B. and Clark, J. B. Lipogenesis in the brain of suckling rats. Studies on the mechanism of mitochondrial-cytosolic carbon transfer.Biochem. J. 188 (1980) 163–168Google Scholar
  15. Shigematsu, H., Okamura, N., Shimeno, H., Kishimoto, Y., Kan, L. and Fenselau, C. Purification and characterization of the heat-stable factors essential for the conversion of lignoceric acid to cerebronic acid and glutamic acid: identification ofN-acetyl-l-aspartic acid.J. Neurochem. 40 (1983) 814–820Google Scholar
  16. Tallan, H. H. Studies on the distribution ofN-acetyl-l-aspartic acid in brain.J. Biol Chem. 224 (1957) 41–45Google Scholar
  17. Tallan, H. H., Moore, S. and Stein, W. H.N-Acetyl-l-asparic acid in brain.J. Biol. Chem. 219 (1956) 257–264Google Scholar
  18. Truckenmiller, M. E., Namboodiri, M. A. A., Brownstein, M. J. and Neale, J. H.N-Acetylation ofl-aspartate in the nervous system: differential distribution of a specific enzyme.J. Neurochem. 45 (1985) 1658–1662Google Scholar

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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