Mucopolysaccharidosis (patient information)

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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-In-Chief: Varun Kumar, M.B.B.S.

Overview

Mucopolysaccharides are long chains of sugar molecules that are found throughout the body, often in mucus and in fluid around the joints. They are more commonly called glycosaminoglycans.

When the body cannot break down mucopolysaccharides, a condition called mucopolysaccharidoses (MPS) occurs. MPS refers to a group of inherited disorders of metabolism. People with MPS do not have any, or enough of, a substance (enzyme) needed to break down the sugar molecule chains.

What are the symptoms of (condition)?

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
• Mental retardation

Types of Mucopolysaccharidosis

Forms of MPS include:

• Hunter syndrome
• Hurler syndrome
• Sanfilippo syndrome
• Scheie syndrome
• Morquio syndrome

When to seek urgent medical care?

Call your health care provider if:

• You have a family history of mucopolysaccharidosis and are considering having children.
• Your child begins to show symptoms of mucopolysaccharidosis.

Diagnosis

• EKG
• Genetic testing for defective gene
• Urine tests
• X-ray of the spine
• Enzyme study

Treatment options

• Enzyme replacement therapy adds a working form of the missing enzyme to the body.
• Bone marrow transplant has been used in several patients with this condition. The treatment has had mixed results.
• Other treatments depend on the organs that are affected.

Where to find medical care for (condition)?

Directions to Hospitals Treating Mucopolysaccharidosis

What to expect (Outlook/Prognosis)?

Prognosis depends on the type of mucopolysaccharidosis. Prognosis is usually poor if the disease has an early onset and is severe.

Possible complications

• Loss of ability to complete daily living activities
• Joint stiffness that leads to contractures
• Mental function that gets worse over time

Sources

http://www.nlm.nih.gov/medlineplus/ency/article/002263.htm