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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
; ; ; and
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
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}},
}