Increased urinary excretion of free N-acetylneuraminic acid in thirteen patients with Salla disease
(1979) In European Journal of Biochemistry 101(1). p.245-250- Abstract
- 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.
Please use this url to cite or link to this publication:
https://lup.lub.lu.se/record/1102708
- author
- Renlund, Martin ; Chester, Alan LU ; Lundblad, Arne ; Aula, Pertti ; Raivio, Kari O ; Autio, Seppo and Koskela, Sirkka-Liisa
- organization
- publishing date
- 1979
- type
- Contribution to journal
- publication status
- published
- subject
- in
- European Journal of Biochemistry
- volume
- 101
- issue
- 1
- pages
- 245 - 250
- publisher
- Wiley-Blackwell
- external identifiers
-
- pmid:510308
- scopus:0018572841
- ISSN
- 0014-2956
- DOI
- 10.1111/j.1432-1033.1979.00245.pp.x
- language
- English
- LU publication?
- yes
- id
- 4bc46c2e-9768-4ccc-819f-2d6e0a6499fd (old id 1102708)
- date added to LUP
- 2016-04-01 15:49:22
- date last changed
- 2021-01-03 09:19:23
@article{4bc46c2e-9768-4ccc-819f-2d6e0a6499fd, abstract = {{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.}}, author = {{Renlund, Martin and Chester, Alan and Lundblad, Arne and Aula, Pertti and Raivio, Kari O and Autio, Seppo and Koskela, Sirkka-Liisa}}, issn = {{0014-2956}}, language = {{eng}}, number = {{1}}, pages = {{245--250}}, publisher = {{Wiley-Blackwell}}, series = {{European Journal of Biochemistry}}, title = {{Increased urinary excretion of free N-acetylneuraminic acid in thirteen patients with Salla disease}}, url = {{http://dx.doi.org/10.1111/j.1432-1033.1979.00245.pp.x}}, doi = {{10.1111/j.1432-1033.1979.00245.pp.x}}, volume = {{101}}, year = {{1979}}, }