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

Renlund, Martin; Chester, Alan LU ; Lundblad, Arne; Parkkinen, Jaakko and Krusius, Tom (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)
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author
organization
publishing date
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
2008-08-13 10:52:33
date last changed
2017-09-03 04:28:28
@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},
  volume       = {130},
  year         = {1983},
}