TISSUE STORAGE OF MUCOPOLYSACCHARIDES IN HÜRLER-PFAUNDLER'S DISEASE

Abstract

The characteristic storage substances which accumulates in the liver and spleen of patients with Hurler-Pfaundler''s disease ("gargoylism") was isolated from tissues removed at autopsy and by biopsy. By suitable fractionation procedures, this water-soluble material was shown to consist of a family of oligosaccharides each of which is composed exclusively of D-glucosamine and D-glucuronic acid units united in glycosidic linkage. Two-thirds of the glucosamine residues of the molecule are acetylated, and the remaining 1/3 most probably is united with sulfate in an amido-sulfonic acid linkage. The oligosaccharides are all further sulfated and differ from one another in the degree of this sulfation. The substances are of low molecular weight, as shown by their slow dialyzability and by calculation from determinations of sedimentation and diffusion constants. Elementary analyses support the assignment of a heptasaccharide structure to many of the fractions studied. In such a structure the ratio of glucuronic acid to glucosamine residues is 1.33. The substances all have a considerable positive optical rotation. One possible detailed structure of the molecule is discussed.