Journal of Inherited Metabolic Disease

, Volume 10, Issue 2, pp 97–102

Sialuria: a second case

  • B. Wilcken
  • N. Don
  • R. Greenaway
  • J. Hammond
  • L. Sosula
Article

Abstract

A case of sialuria is described in a girl who presented in the neonatal period with hepatosplenomegaly, and who has moderate developmental delay at the age of 2 years. There was massive urinary excretion of free sialic acid (N-acetylneuraminic acid). The clinical, biochemical and ultramicroscopical features were distinct from those described in Salla disease and in infantile sialic acid storage disorder.

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References

  1. Aula, P., Autio, S. and Raivo, K. O. Salla Disease: a new lysosomal storage disorder.Arch. Neurol. 36 (1979) 88–94Google Scholar
  2. Fontaine, G., Biserte, G., Montreuil, A., Dupont, A. and Farriaux, J. P. La sialurie: un trouble métabolique original.Helv. Pediatr. Acta. 23 (suppl. XVII) (1968) 1–32Google Scholar
  3. Hancock, L. W., Thaler, M. M., Horwitz, A. L. and Dawson, G. Generalised N-acetylneuraminic acid storage disease: quantitation and identification of the monosaccharide accumulating in brain and other tissues.J. Neurochem. 38 (1982) 803–809Google Scholar
  4. Humbel, R. and Collart, M. Oligosaccharides in urine of patients with glycoprotein storage diseases. 1. Rapid detection by thin-layer chromatography.Clin. Chim. Acta 60 (1975) 143–145Google Scholar
  5. Philippart, M., Kamensky, I., Cancilla, P., Callahan, J., Zeilstra, L., Nakatani, S. and Farriaux, J. P. N-acetylneuraminic storage with sialuria.Pediatr. Res. 8 (1974) 393Google Scholar
  6. Renlund, M. Clinical and laboratory diagnosis of Salla disease in infancy and childhood.J. Pediatr. 104 (1984) 232–236Google Scholar
  7. Renlund, M., Aula, P., Raivio, K. O., Autio, S., Sairio, K., Rapola, J. and Koskala, S-L. Salla disease: a new lysosomal storage disorder with disturbed sialic acid metabolism.Neurology 33 (1983) 57–66Google Scholar
  8. Sewell, A. C. An improved thin-layer chromatography method for urinary oligosaccharide screening.Clin. Chim. Acta 92 (1979) 411–414Google Scholar
  9. Smith, I. and Seakins, J.Chromatographic and Electrophoretic Techniques, 4th edn. Heinemann Medical, Bath, UK, 1976, p.354Google Scholar
  10. Stevenson, R. E., Lubinsky, M., Taylor, H. A., Wenger, D. A., Schroer, R. J. and Olmstead, P. M. Sialic acid storage disease with sialuria: clinical and biochemical features in the severe infantile type.Pediatrics 72 (1983) 441–449Google Scholar
  11. Thomas, G. H., Reynolds, L. W. and Miller, C. S. Overproduction of N-acetylneuraminic acid (sialic acid) by sialuria fibroblasts.Pediatr. Res. 19 (1985) 451–455Google Scholar
  12. Tondeur, M., Libert, J., Vamos, E., Van Hoof, F., Thomas, G. H. and Strecker, G. Infantile form of sialic acid storage disorder: clinical, ultrastructural, and biochemical studies on two siblings.Eur. J. Paediatr. 139 (1984) 142–147Google Scholar

Copyright information

© SSIEM and MTP Press Limited 1987

Authors and Affiliations

  • B. Wilcken
    • 1
  • N. Don
    • 2
  • R. Greenaway
    • 1
  • J. Hammond
    • 1
  • L. Sosula
    • 2
  1. 1.NSW Department of HealthOliver Latham LaboratorySydneyAustralia
  2. 2.Prince of Wales Children's HospitalRandwick, SydneyAustralia

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