ABSTRACT
The mucopolysaccharidoses (MPS) are genetically determined disorders in which acid mucopolysaccharides, known chemically as glycosaminoglycans, are stored in the tissues and excreted in large quantities in the urine. Advances in the understanding of the mucopolysaccharidoses followed the growth of fibroblasts from these patients in cell culture and the recognition that there was phenotypic expression of the disease in the fibroblast. A common feature among the mucopolysaccharidoses is the roentgenographic appearance known as dysostosis multiplex. A suspected diagnosis of mucopolysaccharidoses is often pursued chemically by the documentation of increased amounts of mucopolysaccharide in the urine. The gene and the cDNAs for the enzymes defective in the mucopolysaccharidoses with the exception of the MPS IIIC enzyme have been mapped to their respective chromosomes and cloned, and many mutations have been identified. The diseases are autosomal recessive except for Hunter disease which coded for on the X chromosome.
