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

På svenska

Author

  • Martin Renlund
  • Alan Chester
  • Arne Lundblad
  • Jaakko Parkkinen
  • Tom Krusius

Summary, in English

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.

Publishing year

1983

Language

English

Pages

39-45

Publication/Series

European Journal of Biochemistry

Volume

130

Issue

1

Document type

Journal article

Publisher

Wiley-Blackwell

Topic

  • Hematology

Status

Published

ISBN/ISSN/Other

  • ISSN: 0014-2956