Mucopolysaccharidoses is a group of inherited metabolic diseases. Diagnosis of Mucopolysaccharidoses often can be made through clinical examination and urine tests.
Mucopolysaccharidoses is a group of inherited metabolic diseases in which a large amount of complex sugar molecules get accumulated in the body cells and tissues due to a defective or missing enzyme. The accumulation of the sugar molecules leads to permanent progressive cellular damage which affects the mental development, appearance and physical abilities along with organ and system functioning.
The affected person may have may experience development delay or may develop several behavioral problems. The symptoms associated with mucopolysaccharidoses are coarse or rough facial features, thick lips, an enlarged mouth/tongue, short stature, abnormal bone size and excessive body hair growth.
Diagnosis often can be made through clinical examination and urine tests (excess mucopolysaccharides are excreted in the urine). Enzyme assays (testing a variety of cells or body fluids in culture for enzyme deficiency) are also used to provide definitive diagnosis of one of the mucopolysaccharidoses. Prenatal diagnosis using amniocentesis and chorionic villus sampling can verify if a fetus either carries a copy of the defective gene or is affected with the disorder. Genetic counseling can help parents who have a family history of the mucopolysaccharidoses determine if they are carrying the mutated gene that causes the disorders.
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