Increased urinary excretion of free N-acetylneuraminic acid in thirteen patients with Salla disease

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Thirteen severely retarded patients with Salla disease, a new type of lysosomal storage disorder, have been studied biochemically. All patients excreted approximately ten times more free sialic acid than normal individuals. The isolated sialic acid was characterized by paper chromatography, thin-layer chromatography, optical rotation, 13C and 1H nuclear magnetic resonance spectroscopy, and mass spectrometry of its permethylated derivative. The results clearly indicated that the excreted sialic acid was identical to N-acetylneuraminic acid. The main sialylated trisaccharide present in the urine of the patients was identified as 3'-sialyllactose by sugar and methylation analysis. The excreted amounts were found to be within normal range.


  • Martin Renlund
  • Alan Chester
  • Arne Lundblad
  • Pertti Aula
  • Kari O Raivio
  • Seppo Autio
  • Sirkka-Liisa Koskela
Enheter & grupper

Ämnesklassifikation (UKÄ) – OBLIGATORISK

  • Hematologi
Sidor (från-till)245-250
TidskriftEuropean Journal of Biochemistry
Utgåva nummer1
StatusPublished - 1979
Peer review utfördJa