Mucopolysaccharidosis

Overview

Type of disease: Rare conditions

Mucopolysaccharidosis is disease where glycosaminoglycans, a type of sugar molecule, cannot be digested by cells in various locations through the body. The accumulation of these molecules causes dysfunction, deformities, cognitive impairment, or organ problems. The exact symptoms in each case vary by person and by the specific mutation. Symptoms tend to start appearing during early adulthood as glycosaminoglycans accumulate.

A large number of genes are involved in processing these sugar molecules and mutations in any of the genes can cause this condition. Most of the mutations are inherited in a dominant fashion, meaning if one parent has the condition, their children have a 50% chance of inheriting the condition.

A number of tests can be used to diagnose the condition including genetic testing, chorionic villus sampling, presence of glycosaminoglycans in the urine, and measuring enzyme activity in cells. If you or a family member has been diagnosed with this condition, talk to your doctor about the best treatment options and resources.

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