"Sly-Syndrome" MPS VII - Page 1

MPS VII is a mucopolysaccharide disorder also known respectively as Sly syndrome. It takes its name from Dr. William Sly who originally described the condition in 1972. MPS VII – The first canine MPS disorder identified was in a mixed breed dog at the University of Pennsylvania 25 years ago. The same mutation causing MPS VII in the original mixed breed dog has now been identified to cause MPS VII in the German Shepherd Dog. At present there is no cure for any of the mucopolysaccharide disorders. There has been little or no experience with bone marrow transplantation or with enzyme replacement therapy in individuals with MPS VII. Studies in animal models of this disorder suggest that both bone marrow transplantation and enzyme replacement therapy may be effective forms of therapy for problems affecting the body. What causes this disorder? mucopolysaccharides are long chains of sugar molecule used in the building of connective tissues in the body. • "muco" refers to the thick jelly-like consistency of the molecules • "poly" means many • "saccharide" is a general term for a sugar molecule (think of saccharin) There is a continuous process in the body of replacing used materials and breaking them down for disposal. Dogs with MPS VII are missing an enzyme called beta-glucuronidase which is essential in cutting up the used mucopolysaccharides, called heparan sulfate, chondroitin 4-, 6-sulfates, and dermatan sulfate. The incomplete broken down mucopolysaccharides remain stored in cells in the body causing progressive damage. dogs may show little sign of the disorder, but as more and more cells become damaged, symptoms start to appear Mucopolysaccharidosis (MPS) – a condition in which long chain sugars of the body are not properly broken down. Cellular accumulation is systemic and can result to varying degrees in skeletal deformities, including defects in the sternum, vertebrae, and joints, corneal cloudiness, facial dysmorphia, and neurological signs. The skeletal malformations are generally recognized within the first few days to months of life, whereas the neurological signs do not appear until adulthood in some forms of MPS. A definitive diagnosis is reached by demonstrating deficient activity of a specific enzyme in blood or tissue, or by DNA testing, if the disease-causing mutation in a breed has been documented. Mucopolysaccharidoses (MPS) and related diseases are genetic lysosomal storage diseases (LSD) caused by the body’s inability to produce specific enzymes. Normally, the body uses enzymes to break down and recycle materials in cells. In individuals with MPS and related diseases, the missing or insufficient enzyme prevents the proper recycling process, resulting in the storage of materials in virtually every cell of the body. As a result, cells do not perform properly and may cause progressive damage throughout the body, including the heart, bones, joints, respiratory system and central nervous system. While the disease may not be apparent at birth, signs and symptoms develop with age as more cells become damaged by the accumulation of cell materials. http://www.vet.upenn.edu/research/centers/penngen/ http://www.google.com/u/PennVeterinaryMedicine?q=MPS+VII&sa=Start+Search&domains=vet.upenn.edu&sitesearch=vet.upenn.edu

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