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Mucopolysaccharidosis type III

Definition

Mucopolysaccharidosis type III (MPS III) is a rare disease in which the body is missing or does not have enough of certain enzymes needed to break down long chains of sugar molecules. These chains of molecules are called glycosaminoglycans (formerly called mucopolysaccharides). As a result, the molecules build up in different parts of the body and cause various health problems.

The condition belongs to a group of diseases called mucopolysaccharidoses (MPSs). MPS II is also known as Sanfilippo syndrome.

There are several other types of MPSs, including:

  • MPS I (Hurler syndrome; Hurler-Scheie syndrome; Scheie syndrome)
  • MPS II (Hunter syndrome)
  • MPS IV (Morquio syndrome)

Alternative Names

MPS III; Sanfilippo syndrome; MPS IIIA; MPS IIIB; MPS IIIC; MPS IIID; Lysosomal storage disease - mucopolysaccharidosis type III

Causes

MPS III is an inherited disorder. This means it is passed down through families. If both parents carry a nonworking copy of a gene related to this condition, each of their children has a 25% (1 in 4) chance of developing the disease. This is called an autosomal recessive trait.

MPS III occurs when the enzymes needed to break down the heparan sulfate sugar chain are missing or defective.

There are four main types of MPS III. The type a person has depends on which enzyme is affected.

  • Type A is caused by a defect in the SGSH gene and is the most severe form. People with this type do not have a normal form of the enzyme called heparan N-sulfatase.
  • Type B is caused by a defect in the NAGLU gene. People with this type are missing or do not produce enough alpha-N-acetylglucosaminidase.
  • Type C is caused by a defect in the HGSNAT gene. People with this type are missing or do not produce enough acetyl-CoAlpha-glucosaminide acetyltransferase.
  • Type D is caused by a defect in the GNS gene. People with this type are missing or do not produce enough N-acetylglucosamine 6-sulfatase.

Symptoms

Symptoms often appear after the first year of life. A decline in learning ability typically occurs between ages 2 and 6. The child may have normal growth during the first few years, but final height is below average. Delayed development is followed by worsening mental status.

Other symptoms may include:

  • Behavioral problems, including hyperactivity
  • Coarse facial features with heavy eyebrows that meet in the middle of the face above the nose
  • Chronic diarrhea
  • Enlarged liver and spleen
  • Sleep difficulties
  • Stiff joints that may not extend fully
  • Vision problems and hearing loss
  • Walking problems

Exams and Tests

The health care provider will perform a physical exam.

Urine tests will be done. People with MPS III have a large amount of a mucopolysaccharide called heparan sulfate in the urine.

Other tests may include:

  • Blood culture
  • Echocardiogram
  • Genetic testing
  • Slit lamp eye exam
  • Skin fibroblast culture
  • X-rays of the bones

Treatment

Treatment of MPS III is aimed at managing the symptoms. There is no specific treatment for this disease.

Support Groups

For more information and support, contact one of the following organizations:

Outlook (Prognosis)

MPS III causes significant nervous system symptoms, including severe intellectual disability. Most people with MPS III live into their teenage years. Some live longer, while others with severe forms die at an earlier age. Symptoms are most severe in people with type A.

Possible Complications

These complications can occur:

  • Blindness
  • Inability to care for self
  • Intellectual disability
  • Nerve damage that slowly gets worse and eventually requires wheelchair use
  • Seizures

When to Contact a Medical Professional

Call your child's health care provider if your child does not seem to be growing or developing normally.

See your provider if you plan to have children and you have a family history of MPS III.

Prevention

Genetic counseling is recommended for couples who want to have children and who have a family history of MPS III. Prenatal testing is available.

References

Pyeritz RE. Inherited diseases of connective tissue. In: Goldman L, Schafer AI, eds. Goldman-Cecil Medicine. 25th ed. Philadelphia, PA: Elsevier Saunders; 2016:chap 260.

Spranger JW. Mucopolysaccharidoses. In: Kliegman RM, Stanton BF, St. Geme JW, Schor NF, eds. Nelson Textbook of Pediatrics. 20th ed. Philadelphia, PA: Elsevier; 2016:chap 88.

Wraith JE. Mucopolysaccharidoses. In: Rimoin D, Korf B, eds. Emery and Rimoin's Principles and Practice of Medical Genetics. 6th ed. Philadelphia, PA: Elsevier; 2013:chap 102.

Review Date:5/1/2017
Reviewed By:Anna C. Edens Hurst, MD, MS, Assistant Professor in Medical Genetics, The University of Alabama at Birmingham, Birmingham, AL. Review provided by VeriMed Healthcare Network. Also reviewed by David Zieve, MD, MHA, Medical Director, Brenda Conaway, Editorial Director, and the A.D.A.M. Editorial team.

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Health Outcome Data

No data available for this condition/procedure.

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