Journal of Inherited Metabolic Disease

, Volume 10, Issue 2, pp 97–102

Sialuria: a second case

Authors

  • B. Wilcken
    • NSW Department of HealthOliver Latham Laboratory
  • N. Don
    • Prince of Wales Children's Hospital
  • R. Greenaway
    • NSW Department of HealthOliver Latham Laboratory
  • J. Hammond
    • NSW Department of HealthOliver Latham Laboratory
  • L. Sosula
    • Prince of Wales Children's Hospital
Article

DOI: 10.1007/BF01800030

Cite this article as:
Wilcken, B., Don, N., Greenaway, R. et al. J Inherit Metab Dis (1987) 10: 97. doi:10.1007/BF01800030

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.

Copyright information

© SSIEM and MTP Press Limited 1987