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Mucopolysaccharidosis Causes

As cited, deficiency of the lyosomal enzyme as well as genetic factors cause the disorder.

Mucopolysaccharidosis Definition

A group of autosomal recessive metabolic disorders, Mucopolysaccharidosis is caused to the absence or malfunctioning of lyosomal enzymes. Said enzymes are needed to break down the molecules called glycosaminoglycans.

Mucopolysaccharidosis Diagnosis

Determining the specific enzymatic activity in cultured fibrolasts or leukocytes aids in the diagnosis of the disorder. It also possible to perform prenatal diagnosis using cultured amniocytes or chorionic villi.

Mucopolysaccharidosis Symptoms and Signs

Physical disabilities, organ and system malfunction, and effects on mental development may be experienced by patients.

Mucopolysaccharidosis Treatment

Treating systemic conditions and improving a patient's quality of life are the goal of medical care related to the disorder since there really is no existing cure. Diet changes may aid individuals suffering from excessive mucus while removing the tonsils may improve breathing. Enzyme replacement therapies are currently being used and tested.

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