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Doctors for Mucopolysaccharidosis in Gopankoppa, Hubli-Dharwad
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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.
HOW IS MUCOPOLYSACCHARIDOSIS DIAGNOSED?
A diagnosis of a mucopolysaccharidosis disorder is made based upon a thorough clinical evaluation, identification of characteristic findings (e.g., coarse facial features, skeletal malformations, hepatosplenomegaly), and a variety of specialized tests including urine analysis to detect excessive levels of mucopolysaccharides. Tests known as enzyme assays may be performed to detect deficient levels of lysosomal enzymes in cells of the body.
HOW IS MUCOPOLYSACCHARIDOSIS TREATED?
Unfortunately, there is no current treatment available for Mucopolysaccharidosis. However, exercises and physiotherapy are highly recommended here. Patients suffering from this problem can get respite from Enzyme replacement therapy or even bone marrow transplant. In some cases, there has been some relief from umbilical cord blood transplantation too but the chances of success are lower.
DID YOU KNOW?
According to studies conducted 1 in 25,000 babies in the United States are born with mucopolysaccharidosis.