Keratan sulphate levels in mucopolysaccharidoses and mucolipidoses

DOI Web Site 被引用文献4件
  • S. Tomatsu
    Department of Pediatrics, Cardinal Glennon Children's Hospital Saint Louis University USA
  • K. Okamura
    Seikagaku Corporation Japan
  • H. Maeda
    Seikagaku Corporation Japan
  • T. Taketani
    Department of Pediatrics Shimane Medical University Japan
  • S. V. Castrillon
    Department of Pediatrics, Cardinal Glennon Children's Hospital Saint Louis University USA
  • M. A. Gutierrez
    Department of Pediatrics, Cardinal Glennon Children's Hospital Saint Louis University USA
  • T. Nishioka
    Department of Pediatrics, Cardinal Glennon Children's Hospital Saint Louis University USA
  • A. A. Fachel
    Department of Pediatrics, Cardinal Glennon Children's Hospital Saint Louis University USA
  • K. O. Orii
    Edward A. Doisy Department of Biochemistry and Molecular Biology Saint Louis University School of Medicine USA
  • J. H. Grubb
    Edward A. Doisy Department of Biochemistry and Molecular Biology Saint Louis University School of Medicine USA
  • A. Cooper
    Willink Biochemical Genetics Unit Royal Manchester Children's Hospital UK
  • M. Thornley
    Willink Biochemical Genetics Unit Royal Manchester Children's Hospital UK
  • E. Wraith
    Willink Biochemical Genetics Unit Royal Manchester Children's Hospital UK
  • L. A. Barrera
    Institute of Inborn Errors of Metabolism Javeriana University Colombia
  • L. S. Laybauer
    Medical Genetics Service Federal University of Rio Grande do Sul Brazil
  • R. Giugliani
    Medical Genetics Service Federal University of Rio Grande do Sul Brazil
  • I. V. Schwartz
    Medical Genetics Service Federal University of Rio Grande do Sul Brazil
  • G. Schulze Frenking
    Department of Pediatrics University of Mainz Germany
  • M. Beck
    Department of Pediatrics University of Mainz Germany
  • S. G. Kircher
    Institute of Medical Chemistry University of Vienna Austria
  • E. Paschke
    Laboratory of Metabolic Diseases, Department of Pediatrics University of Graz Austria
  • S. Yamaguchi
    Department of Pediatrics Shimane Medical University Japan
  • K. Ullrich
    Department of Pediatrics University of Hamburg Germany
  • M. Haskins
    School of Veterinary Medicine University of Pennsylvania USA
  • K. Isogai
    Department of Pediatrics Gifu University School of Medicine Japan
  • Y. Suzuki
    Department of Pediatrics Gifu University School of Medicine Japan
  • T. Orii
    Department of Pediatrics Gifu University School of Medicine Japan
  • N. Kondo
    Department of Pediatrics Gifu University School of Medicine Japan
  • M. Creer
    Department of Pathology Saint Louis University School of Medicine USA
  • T. Okuyama
    National Center for Child Health and Development Tokyo Japan
  • A. Tanaka
    Osaka City University Graduate School of Medicine Japan
  • A. Noguchi
    Department of Pediatrics Shimane Medical University Japan

抄録

<jats:title>Summary</jats:title><jats:p>The 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 <jats:italic>N</jats:italic>‐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 evaluated blood and urine KS levels in types of MPS and ML other than MPS IV. Eighty‐five plasma samples came from MPS I (<jats:italic>n</jats:italic>=18), MPS II (<jats:italic>n</jats:italic>=28), MPS III (<jats:italic>n</jats:italic>=20), MPS VI (<jats:italic>n</jats:italic>=3), MPS VII (<jats:italic>n</jats:italic>=5) and ML (<jats:italic>n</jats:italic>=11) patients while 127 urine samples came from MPS I (<jats:italic>n</jats:italic>=34), MPS II (<jats:italic>n</jats:italic>=34), MPS III (<jats:italic>n</jats:italic>=32), MPS VI (<jats:italic>n</jats:italic>=7), MPS VII (<jats:italic>n</jats:italic>=9) and ML (<jats:italic>n</jats:italic>=11) patients. KS levels were determined using the ELISA method. Plasma KS levels varied with age in both control and patient populations. In all age groups, the mean values of plasma KS in MPS and ML patients were significantly higher than those in the age‐matched controls. Plasma KS values in four newborn patients were above the mean + 2SD of the age‐matched controls (mean, 41 ng/ml). Overall, 85.9% of individual values in non‐type IV MPS and ML patients were above the mean + 2SD of the age‐matched controls. For urine KS levels, 24.4% of individual values in patients were above the mean + 2SD of the age‐matched controls. In conclusion, KS in blood is elevated in each type of non‐type IV MPS examined, in contrast to the conventional understanding. This finding suggests that measurement of KS level provides a new diagnostic biomarker in a wide variety of mucopolysaccharidoses and mucolipidoses in addition to MPS IV.</jats:p>

収録刊行物

被引用文献 (4)*注記

もっと見る

関連プロジェクト

もっと見る

キーワード

詳細情報 詳細情報について

問題の指摘

ページトップへ