Increased urinary excretion of free N-acetylneuraminic acid in thirteen patients with Salla disease
Author
Summary, in English
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.
Department/s
Publishing year
1979
Language
English
Pages
245-250
Publication/Series
European Journal of Biochemistry
Volume
101
Issue
1
Links
Document type
Journal article
Publisher
Wiley-Blackwell
Topic
- Hematology
Status
Published
ISBN/ISSN/Other
- ISSN: 0014-2956