Mucopolysaccharides in disease

F-1) The mucopolysaccharidoses are proteoglycan disorders that generally result from a hereditary lysosomal defect in enzymes that normally degrade mucopolysaccharides (in most cases heparan sulfate and dermatan sulfate). This leads to the accumulation of different mucopolysaccharides, which may be associated with a variety of different findings, commonly including mental retardation and various skeletal abnormalities. These diseases include Hunter disease, Hurler and Scheie disease, I-cell disease , Maroteaux-Laury disease, Morquio syndrome, Mucolipidoses VH disease, multiple sulfatase deficiency, and Sanfilippo A and B diseases, which will not be elaborated on further here. Often these conditions can be detected in advance on amniocentesis. 

The concentration of acid mucopolysaccharides in serum, and their excretion in urine, are increased in patients with rheumatoid arthritis (D7), lupus erythematosus (D6), diabetes (C7), and leukemia (R2, SIO) and other malignant diseases (R2). The daily urinary excretion of acid mucopolysaccharides was within the normal range in cases of acute hepatitis, but was usually increased in chronic hepatitis and in florid cirrhosis (K5). A decrease in the amount of acid mucopolysaccharides excreted was found in primary hepatoma, whereas in most cases of obstructive jaundice the amount was markedly increased (K5). 

B15. Brown, D. H., Tissue storage of mucopolysaccharide in Hiirler-Pfaundler s disease. Proc. Natl. Acad. Set. U. S. 43, 783-790 (1957). 

Gll. Grumbach, M. M., and Meyer, K., Urinary excretion and tissue storage of sulfated mucopolysaccharides in Hurler s syndrome. A.M.A. ]. Diseases Children 96, 467-469 (1958). 

II. Igarashi, Y., Saito, Y., and Aizawa, I., Mucopolysaccharides in skin diseases I. Treatment of urticaria pigmentosa with hyaluronidase. Tohoku J. Exptl. Med. 58, 305-309 (1953). 

M46. Muir, H., Structure and enzymic degradation of mucopolysaccharides. In Lysosomes and Storage Diseases (H. G. Hers and F. Van Hoof, eds.), pp. 79-104. Academic Press, New York, 1973. 

W7. Wessler, E., Determination of acidic glycosaminoglycans (mucopolysaccharides) in urine by an ion exchange method. Application to coUagenoses , gargoylism, the nail-patella syndrome and Farber s disease. Clin. Chim. Acta 16,235-243 (1967). 

Hemosiderin an iron storage protein of the mammalian organism, functionally related to Ferritin (see). H. is deposited in the liver and spleen (hemosiderosis), particularly in diseases associated with increased blood destruction, such as pernicious anemia, or with increased iron resorption (hemochromatosis), or even in hemorrhages Most of the deposits are located in the liver, which may contain up to 50 g H., compared with the normal content of 120 to 300 mg H. H. from horse spleen consists of 26-34 % iron(III), and up to 35 % protein (aposiderin). The rest is made up of octasubstituted porphyrin, mucopolysaccharides and fatty acid esteis. 

Differential diagnosis from Tay-Sachs disease is possible on the basis of visceral storage, from Niemann-Pick disease and Gaucher s disease through the identification of the stored lipid and from Hurler s syndrome by the storage and excretion of acid mucopolysaccharides in the latter. 

Microbial communities associated with the surface mucopolysaccharide layer and tissue of healthy and yellow band diseased coral, Montastraea faveolata, were examined with GeoChip to determine the microbial functional structures and understand how changes in the microbial community may impact disease status (109). Diseased corals had increased numbers of cellulose degradation and nitrification genes, suggesting that these processes may provide a competitive advantage to coral pathogens. 

There are numerous inherited disorders of lysosomal metabolism in humans. These disorders result from the lack of a specific acid hydrolase and have several clinical manifestations. A variety of substances may accumulate that interfere with normal cell functions, as is the case with the lipidoses (Chapter 9) or mucopolysaccharides (glycosaminoglycans) in the Hurler s disease (gargoylism). 

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