Mucopolysaccharides in urine

Mucopolysaccharidoses - storage diseases caused by a genetically determined deficiency of lysosomal hydrolases, which are necessary for the breakdown of mucopolysaccharides: dernatan sulfate, heparan and keratan, which are part of the proteoglycans of the extracellular matrix extracellular matrix. Mucopolysaccharides (glucosaminoglycans) in excessive amounts accumulate mainly in cells of the phagocytic cells, fibroblasts, endothelial cells and the smooth muscle smooth muscle of the inner blood vessel wall. As a result damage and dysfunction of the spleen, liver, bone marrow bone marrow and other organs. Patients have characteristic phenotypic features. Determination of mucopolysaccharides in urine is a test for detecting mucopolysaccharidoses. The test confirming the diagnosis of the disease is the detection of an enzymatic defect enzymatic defect.