Free N-acetylneuraminic acid in tissues in Salla disease and the enzymes involved in its metabolism

Research output: Contribution to journalArticle


Salla disease is a lysosomal storage disorder of unknown etiology, characterized biochemically by increased urinary excretion of N-acetylneuraminic acid. This compound has now been shown to occur in abnormally large amounts in liver and cultured skin fibroblasts from these patients. Quantification of N-acetylneuraminic acid was performed using a new gas-chromatography/mass spectrometric single-ion method which is sensitive and specific. No abnormalities in the activity of several enzymes involved in sialic acid metabolism (N-acetylneuraminate:pyruvate lyase, neuraminidase, CMP-N-acetylneuraminate N-acylneuraminohydrolase and CTP:N-acyl-neuraminate cytidylyltransferase) were demonstrable. A possible explanation for the defect is a malfunctioning active transport of N-acetylneuraminic acid across the lysosomal membrane.


  • Martin Renlund
  • Alan Chester
  • Arne Lundblad
  • Jaakko Parkkinen
  • Tom Krusius
Research areas and keywords

Subject classification (UKÄ) – MANDATORY

  • Hematology
Original languageEnglish
Pages (from-to)39-45
JournalEuropean Journal of Biochemistry
Issue number1
Publication statusPublished - 1983
Publication categoryResearch