Keratan sulphate levels in mucopolysaccharidoses and mucolipidoses

@article{Tomatsu2005KeratanSL,
  title={Keratan sulphate levels in mucopolysaccharidoses and mucolipidoses},
  author={S. Tomatsu and K. Okamura and H. Maeda and T. Taketani and S. V. Castrillon and M. Gutierrez and T. Nishioka and A. Fachel and K. Orii and J. Grubb and A. Cooper and M. Thornley and E. Wraith and L. A. Barrera and L. Laybauer and R. Giugliani and I. Schwartz and G. S. Frenking and M. Beck and S. Kircher and E. Paschke and S. Yamaguchi and K. Ullrich and M. Haskins and K. Isogai and Y. Suzuki and T. Orii and N. Kondo and M. Creer and T. Okuyama and A. Tanaka and A. Noguchi},
  journal={Journal of Inherited Metabolic Disease},
  year={2005},
  volume={28},
  pages={187-202}
}
SummaryThe mucopolysaccharidoses (MPS) is characterized by accumulation of glycosaminoglycans (GAGs), and mucolipidosis (ML) by accumulation of GAGs and sphingolipids. Each type of MPS accumulates specific GAGs. The lysosomal enzymes N-acetylgalactosamine-6-sulphate sulphatase and β-galactosidase involve the stepwise degradation of keratan sulphate (KS). Deficiency of these enzymes results in elevation of KS levels in the body fluids and in tissues, leading to MPS IV disease. In this study, we… Expand
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TLDR
Urinary HNAc‐UA (1S) is a reliable, sensitive and specific biomarker for the diagnosis of MPS IVA and can be used to biochemically monitor the response to ERT. Expand
Validation of keratan sulfate level in mucopolysaccharidosis type IVA by liquid chromatography–tandem mass spectrometry
TLDR
It was found that blood KS level varied with age and clinical severity in the patients, and the new KS assay for blood is suitable for early diagnosis and longitudinal assessment of disease severity in MPS IVA. Expand
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TLDR
Historical aspect, property of GAGs, diagnosis, screening, pathogenesis, and current and future therapies of MPS IVA are comprehensively described. Expand
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TLDR
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Title Establishment of glycosaminoglycan assays for mucopolysaccharidoses
Mucopolysaccharidoses (MPS) are a group of lysosomal storage disorders caused by deficiency of the lysosomal enzymes essential for catabolism of glycosaminoglycans (GAGs). Accumulation of undegradedExpand
Biomarkers in patients with mucopolysaccharidosis type II and IV
Glycosaminoglycans (GAGs), dermatan sulfate (DS), heparan sulfate (HS), and keratan sulfate (KS), are the primary biomarkers in patients with mucopolysaccharidoses (MPS); however, little is knownExpand
Newborn screening and diagnosis of mucopolysaccharidoses.
TLDR
The findings show that the combined measurements of these three GAGs are sensitive and specific for detecting all types of MPS with acceptable false negative/positive rates, and this method will also be used for monitoring therapeutic efficacy. Expand
Establishment of Glycosaminoglycan Assays for Mucopolysaccharidoses
TLDR
These methods have a high sensitivity and specificity in GAG analysis, applicable to the analysis of blood, urine, tissues, and cells and an automated high-throughput mass spectrometry system (RapidFire) to identify epitopes or disaccharides derived from different GAGs. Expand
Mental retardation in mucopolysaccharidoses correlates with high molecular weight urinary heparan sulphate derived glucosamine
TLDR
A positive relationship between the accumulation of high molecular weight HS and mental retardation in MPS severe compared to attenuated forms is demonstrated, supported by the consideration that accumulation of other GAGs different from HS, and low molecular Weight HS fragments do not impact on central nervous system disease. Expand
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