Free N-acetylneuraminic acid in tissues in Salla disease and the enzymes involved in its metabolism
(1983) In European Journal of Biochemistry 130(1). p.39-45- Abstract
- 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... (More)
- 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. (Less)
Please use this url to cite or link to this publication:
https://lup.lub.lu.se/record/1103037
- author
- Renlund, Martin ; Chester, Alan LU ; Lundblad, Arne ; Parkkinen, Jaakko and Krusius, Tom
- organization
- publishing date
- 1983
- type
- Contribution to journal
- publication status
- published
- subject
- in
- European Journal of Biochemistry
- volume
- 130
- issue
- 1
- pages
- 39 - 45
- publisher
- Wiley-Blackwell
- external identifiers
-
- pmid:6297896
- scopus:0020623398
- ISSN
- 0014-2956
- DOI
- 10.1111/j.1432-1033.1983.tb07114.x
- language
- English
- LU publication?
- yes
- id
- d8c6faa2-5795-4715-b020-1113bd3fbff1 (old id 1103037)
- date added to LUP
- 2016-04-01 15:36:26
- date last changed
- 2021-05-23 06:19:11
@article{d8c6faa2-5795-4715-b020-1113bd3fbff1, abstract = {{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.}}, author = {{Renlund, Martin and Chester, Alan and Lundblad, Arne and Parkkinen, Jaakko and Krusius, Tom}}, issn = {{0014-2956}}, language = {{eng}}, number = {{1}}, pages = {{39--45}}, publisher = {{Wiley-Blackwell}}, series = {{European Journal of Biochemistry}}, title = {{Free N-acetylneuraminic acid in tissues in Salla disease and the enzymes involved in its metabolism}}, url = {{http://dx.doi.org/10.1111/j.1432-1033.1983.tb07114.x}}, doi = {{10.1111/j.1432-1033.1983.tb07114.x}}, volume = {{130}}, year = {{1983}}, }