Mucopolysaccharidosis, type ii - what does this mean
Mucopolysaccharidosis, type ii, is a genetic disorder caused by a deficiency of the enzyme iduronate-2-sulfatase, which results in the accumulation of glycosaminoglycans in the body's cells and tissues. this accumulation leads to progressive physical and mental deterioration, and can result in a wide range of symptoms, including skeletal deformities, hearing loss, vision problems, enlarged liver and spleen, and heart and respiratory problems.
What happens during the disease - mucopolysaccharidosis, type ii
Mucopolysaccharidosis type ii (mps ii) is an inherited lysosomal storage disorder caused by a deficiency in the enzyme iduronate-2-sulfatase. this enzyme is responsible for the breakdown of glycosaminoglycans, which are complex carbohydrates found in the lysosomes of cells. without the enzyme, glycosaminoglycans accumulate in the lysosomes of cells, leading to progressive damage to the organs and tissues, including the heart, lungs, skeleton, and central nervous system.
Mucopolysaccharidosis, type ii - Prevention
The best way to prevent mucopolysaccharidosis, type ii is through prenatal screening and genetic counseling. couples who are considering having a child should be informed about the risk of this condition and the availability of genetic testing. if the parents are found to be carriers, prenatal testing can be done to determine if the fetus is affected.