Detailed,Information,Morquio,S health Detailed Information on Morquio Syndrome
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Morquio syndrome is a genetic disease of metabolism in which the body is missing or doesn't have enough of a substance needed to break down long chains of sugar molecules called glycosaminoglycans. Lysosomes function as the primary digestive units within cells. Enzymes within lysosomes break down or digest particular nutrients. In individuals with MPS disorders, deficiency or malfunction of specific lysosomal enzymes leads to an abnormal accumulation of certain complex carbohydrates in the arteries, skeleton, eyes, joints, ears, skin, and/or teeth. These accumulations may also be predicate in the respiratory system, liver, spleen, central nervous system, blood, and bone marrow. This compilation eventually causes progressive damage to cells, tissues, and various organ systems of the body. The disease is recognized within the first two years of life and is usually progressive until bone growth ceases in late adolescence. The vertebrae of the spine are wedge-shaped and flattened, and back deformity is common; compression of the spinal cord may occur if back deformity is severe. The heads of the thighbones are small and malformed. Sometimes resulting in dislocation of the hip; knock-knees and irregular development of paired bones are also common. Other symptoms involve clouded corneas and circulatory malformations. Symptoms usually start between ages 1 and 3. There are two forms of Morquio syndrome: Type A and Type B. Persons with Type A do not have a substance (enzyme) called galactosamine-6-sulfatase. Persons with Type B do not produce enough of an enzyme called beta galactosidase. The syndrome is estimated to occur in 1 of every 200,000 births. A family history of the syndrome raises one's risk for the condition. There are many complication is associated with this syndrome. Cognitive function is usually normal in patients with Morquio syndrome. Cardiac complications may lead to death. Bone problems can lead to expressive complications. For example, the small bones at the top of the neck may slip and damage the spinal cord, causing paralysis. There is no specific treatment for Morquio syndrome. Treatment is currently only palliative. Genetic counseling is recommended for prospective parents with a family history of Morquio syndrome. A spinal fusion may prevent irreversible spinal cord injury in persons whose neck bones are underdeveloped.
Detailed,Information,Morquio,S