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Maroteaux-Lamy disease/mucopolysaccharidosis VI/N-acetylgalactosamine-4-sulfatase deficiency
Published in William L. Nyhan, Georg F. Hoffmann, Aida I. Al-Aqeel, Bruce A. Barshop, Atlas of Inherited Metabolic Diseases, 2020
Cytoplasmic inclusions are more prominent in Maroteaux–Lamy syndrome than in any of the other mucopolysaccharidoses. They can be seen in 90–100 percent of granulocytes (Alder granules) [32] and as many as 50 percent of lymphocytes [10]. The inclusions are metachromatic. Lysosomal inclusions are also seen in Kupffer cells and in hepatocytes [33], as well as in platelets [34], and in cells of the conjunctiva, cornea, and skin [35]. Fibroblasts may contain large, clear, juxtanuclear inclusions. Large quantities of dermatan sulfate are excreted in the urine, but the total mucopolysaccharide in the urine may be normal [30]; so screening tests for urinary mucopolysaccharidosis may be misleading.
Animal Models Of Connective Tissue Diseases
Published in Marcos Rojkind, Connective Tissue in Health and Disease, 2017
Gerald Α. Hegreberg, Lynetta J. Freeman
Type VI mucopolysaccharidosis, the Maroteaux-Lamy syndrome, is recognized as an autosomal recessive disorder which is clinically similar to the Hurler syndrome. The form of MPS which accumulates and is excreted in excess is dermatan sulfate,127,128 resulting from a deficiency of the enzyme arylsulfatase B.128 This disorder in people is accompanied by severe osseous changes including growth retardation; joint changes, especially involving the stiffness of the hands and degeneration of the femoral heads; corneal cloudiness; thickening of the heart valves and aortic stenosis. Intelligence does not appear to be impaired. Growth retardation and short stature distinguishes this condition from Sheie's disease.
Novel chorioretinal findings in two siblings with mucopolysaccharidosis type VI
Published in Ophthalmic Genetics, 2022
Tanya Kowalski, Sarah Donoghue, Gerard de Jong, Heather G. Mack
The Mucopolysaccharidoses are a collection of clinically distinct syndromes grouped together under this nomenclature as they each result from specific genetically defined alterations in the biochemical processing of glycosaminoglycans (GAG). Mucopolysaccharidosis type VI (MPS VI, Maroteaux-Lamy syndrome, OMIM # 253,200) is an autosomal recessive lysosomal storage disorder caused by genetic variants in the arylsulfatase B (ARSB) gene on chromosome 5q14. The arylsulfatase B enzyme is responsible for processing the residues at the ends of dermatan sulfate and chondroitin 4-sulfate by hydrolysing the C4 ester linkage in the N-acetylgalactosamine 4-sulfate residues at the non-reducing end of the GAG (1). Deficiency of ARSB enzyme activity in MPS VI patients leads to the accumulation of partially degraded GAGs dermatan sulfate and chondroitin-4 sulfate. Accumulation of these intermediate breakdown products in the lysosomes of tissues in multiple organ systems causes cellular and structural damage by a number of mechanisms including inflammatory cascades through the activation of the Toll-like receptor-4 (2).
Enzyme therapy: a forerunner in catalyzing a healthy society?
Published in Expert Opinion on Biological Therapy, 2020
Saptashwa Datta, K Narayanan Rajnish, C George Priya Doss, S. Melvin Samuel, E. Selvarajan, Hatem Zayed
Enzyme replacement therapy was the first publicized use of enzymes for therapeutic purposes. The possibility of using enzymes for the therapy of lysosomal storage diseases was proposed in 1964 by Dr. Christian de Duve [3]. Since its provenance, enzyme replacement therapy has made large strides and is currently used for the treatment of multiple enzyme deficiency disorders, including Gaucher disease [4], Fabry disease [5], Pompe disease [6], Hunter syndrome [7], Hurler–Scheie syndrome [8], Sly syndrome [9], Morquio A syndrome [10], Tay–Sachs disease [11], Wolman disease [12], adenosine deaminase-severe combined immune deficiency [13], hypophosphatasia [14], metachromatic leukodystrophy [15], Sphingomyelinase deficiency [16], homocystinuria [17], Maroteaux–Lamy syndrome [18], alpha-mannosidosis [19] and ceroid lipofuscinosis type 2 [20]. Pancreatic enzyme replacement therapy is a specialized category of replacement therapy using enzymes used for the therapy of exocrine pancreatic insufficiency, which can occur in various diseases, such as cystic fibrosis, chronic pancreatitis, and celiac disease [21]. Moreover, in the modern era, the therapeutic use of enzymes has been further applied for cancer treatment [22], wound healing [23], improving the life of patients suffering from irritable bowel syndrome [24], fighting antibiotic-resistant microbial infections [25] and gene therapy [26]. In this article, we review the properties of various enzymes, along with their efficacy in the treatment of various disorders. The enzymes have been grouped into sections based on the various diseases they are used to treat. This article also provides an update on recent developments in enzyme research and their application as therapeutics.