Keratan sulphate levels in mucopolysaccharidoses and mucolipidoses

S. Tomatsu
K. Okamura
H. Maeda
T. Taketani
S. V. Castrillon
M. A. Gutierrez
T. Nishioka
A. A. Fachel
K. O. Orii
J. H. Grubb
A. Cooper
M. Thornley
E. Wraith
L. A. Barrera
L. S. Laybauer
R. Giugliani
I. V. Schwartz
G. Schulze Frenking
M. Beck
S. G. Kircher
E. Paschke
S. Yamaguchi
K. Ullrich
M. Haskins
K. Isogai
Y. Suzuki
T. Orii
N. Kondo
M. Creer
T. Okuyama
A. Tanaka
A. Noguchi

Publication date

January 2016

Abstract

Ms received 12.07.04 Accepted 14.10.04 Summary: The mucopolysaccharidoses (MPS) is characterized by accumulation of glycosaminoglycans (GAGs), and mucolipidosis (ML) by accumulation of GAGsand sphingolipids. Each type ofMPSaccumulates specificGAGs.The lyso-somal enzymesN-acetylgalactosamine-6-sulphate sulphatase and b-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 fro