Mucopolysaccharidosis: Paper Electrophoretic and Infra-red Analysis of the Urine in Gargoylism and Morquio-ullrich's Disease.

Urinary excretion of acid mucopolysaccharides of varying composition and amount has been found in a number of rare diseases, mainly affecting the connective tissues. Recently excretion of chondroitin sulphate and hyaluronic acid in the urine of a patient with mastocytosis has been described by Asboe-Hansen and Clausen (1963). Evidence of the presence of acid mucopolysaccharides in different organs from patients with gargoylism has already been given by Brante (1952) and confirmed by others. Recently inclusions of acid mucopolysaccharides in the lymphocytes of some patients with gargoylism have been described (Mittwoch, 1961; Bowman, Mittwoch and Schneiderman, 1962). The occurrence of an abnormal urinary excretion of chondroitin sulphate B and of heparitin sulphate was reported by Dorfman and Lorincz (1957) and by Meyer, Hoffman, Linker, Grumbach and Sampson (1959). In patients with Morquio-Ullrich's disease, a syndrome placed between gargoylism and MorquioBrailsford's disease, urinary excretion of chondroitin sulphate B and a substance thought to be keratosulphate was found by Zellweger, Ponseti, Pedrini, Stamler and von Noorden (1961), and by Dyggve, Melchior and Clausen (1962). As considerable research is being conducted in this subject many disorders may be listed as 'mucopolysaccharidosis' in the future: thus the development of diagnostic tools for identification and differentiation between the acid mucopolysaccharides in the urine seems of fundamental importance for the elucidation of the biochemistry of the different forms of 'mucopolysaccharidosis'. In the present publication data will be given of a chemical method combining paper electrophoresis and infra-red analysis for characterization of the acid mucopolysaccharides in the urine. Case Reports