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Scheie and Hurler–Scheie diseases/mucopolysaccharidosis IS and IHS/α-iduronidase deficiency
Published in William L. Nyhan, Georg F. Hoffmann, Aida I. Al-Aqeel, Bruce A. Barshop, Atlas of Inherited Metabolic Diseases, 2020
The supportive management and enzyme replacement set out in Chapter 76 is particularly appropriate for Scheie and Hurler–Scheie patients. Hematologic stem cell transplantation, especially if performed before two years of age has resulted in rescue of neurocognition [45]. In 45 patients with attenuated disease recombinant laronidase had decreased excretion of glycosaminoglycan and decreased hepatic volume, improved shoulder flexion and decrease in sleep apnea. Corneal transplantation has been successful [46, 47]. Aggressive surgical treatment of glaucoma and carpal tunnel syndrome is also indicated. Cardiac valve replacement has also been successful in both IS and IH/IS patients [18, 19]. Mitral valve replacement and resection of a large left atrial appendage was successful in a patient with Hurler–Scheie syndrome [48]. Hydrocephalus requires shunting, and cervical cord decompression may be required.
Animal Models Of Connective Tissue Diseases
Published in Marcos Rojkind, Connective Tissue in Health and Disease, 2017
Gerald Α. Hegreberg, Lynetta J. Freeman
Several clinical forms of type 1 mucopolysaccharidosis have been identified, including a severe form (Hurler's disease), a least severe form (the Scheie syndrome), and a form which has characteristics of both forms (the Hurler-Scheie syndrome). Hurler's disease is clinically accompanied by progressive clouding of the cornea; skeletal abnormalities resulting in dwarf stature and an altered shape of the head and vertebrae; joint stiffness; mental deterioration; an accumulation of the polysaccharide material in viscera and connective tissue, including the cardiovascular system; and early death. In the Scheie syndrome, corneas are severely clouded, deformities are observed in the hands, and cardiac abnormalities include aortic stenosis or regurgitation. Disorders of stature and intelligence are not severe clinical manifestations of the disease as seen in the Hurler's syndrome. These forms of type I mucopolysaccharidosis are inherited as autosomal recessive traits.
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.