We describe a 3 year old girl with the typical clinical features of the X linked recessive condition, Hunter's disease. The diagnosis was confirmed by the pattern of urinary excretion of glycosaminoglycans and the absence of iduronate sulphatase activity in her fibroblasts. She also had an apparently balanced reciprocal chromosomal translocation 46XX,t(X:5) with the X breakpoint being between q...

Glycosaminoglycans are unbranched polysaccharides composed of repeating units of alternating uronic acids and amino sugars. Most glycosaminoglycans are covalently attached to core proteins to form proteoglycans. Posttranslational modifications result in specific motifs that bind to a large variety of ligands, thus regulating growth factor signaling, cellular behavior, inflammation, angiogenesis...

A simple method is described for measurement of urinary glycosaminoglycans (GAG) in normal and pathological urine: a fixed fraction of the 24-h urine is passed over a small plug of ECTEOLA-modified cellulose and the GAG are eluted with a few milliliters of NaCI solution (3 mol/liter) and measured as hexuronic acid. Because results are compared for equal aliquots of complete 24-h urines, GAG are...

Mucopolysaccharidoses (MPS) are a group of inherited disorders caused by the deficiency of specific lysosomal enzymes involved in glycosaminoglycans (GAGs) degradation. Currently, there are 11 enzyme deficiencies resulting in seven distinct MPS clinical syndromes and their subtypes. Different MPS syndromes cannot be clearly distinguished clinically due to overlapping signs and symptoms. Measure...

Of a range of glycosaminoglycans, heparin and heparan sulphate were the most effective inhibitors in vitro of CaCO3 (calcite) crystallization as assayed by conductimetric measurements. The possible role of such glycosaminoglycans in modulating calcium-salt crystallizations in vivo is discussed.

Abstract All capillary endothelia, including those of the glomeruli, have a luminal cell surface layer (ESL) consisting glycoproteins, glycolipids, proteoglycans (PGs) and glycosaminoglycans. Previous results demonstrated that an intact ESL is necessary for normal filtration barrier damage to coupled proteinuria seen example in diabetic kidney disease (DKD). We used principles ion exchange chro...