Mucopolysaccharides (IDUA/IDS)

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What is Mucopolysaccharides?

Mucopolysaccharides (MPS) or glycosaminoglycans, refers to a group of inherited disorders of metabolism, are long chains of sugar molecules that are found throughout the body, often in mucus and in fluid around the joints. When the body cannot break down mucopolysaccharides, a condition called mucopolysaccharidoses occurs.

People with Mucopolysaccharides do not have any, or enough of, a substance (enzyme) needed to break down the sugar molecule chains. These conditions cause mucopolysaccharides to build up in body tissues. This can damage organs, including the heart. Symptoms can range from mild to severe and may include: Abnormal features of the face bone, cartilage, and connective tissue deformities, intellectual disability.

 

Infografico Carriers

 

What is the next step if I’m a carrier of Mucopolysaccharides?

If you are found to be a carrier of Mucopolysaccharides, it is important that your partner be tested for the same genetic disorder.

 

What if my partner is not a carrier?

If your partner’s test for Mucopolysaccharides is negative, the chance to have an affected child is low. However there is currently no test able to detect all existing mutations, so there is always a residual risk that the person who has done the test is a carrier of other less frequent mutations.

 

What if both me and my partner are carriers of Mucopolysaccharides?

When both parents are carriers of Mucopolysaccharides, the probability of having a child with this disease is 25%.

We recommend that you discuss your results with your doctor or genetic counselor in order to know more about reproductive options.

 

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