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Morquio syndrome

Definition

Morquio syndrome is an inherited disease of metabolism in which the body is missing or doesn't have enough of a substance needed to break down long chains of sugar molecules called glycosaminoglycans (formerly called mucopolysaccharides).

The syndrome belongs to a group of diseases called mucopolysaccharidoses (MPS). Specifically, it is known as MPS IV.

See also:

Alternative Names

Mucopolysaccharidosis type IVA; Galactosamine-6-sulfatase deficiency; Mucopolysaccharidosis type IVB; Beta galactosidase deficiency; MPS IV

Causes

Morquio syndrome is an autosomal recessive trait. If both parents carry the defective gene related to this condition, each of their children has a 25% chance of developing the disease.

There are two forms of Morquio syndrome: Type A and Type B.

  • Persons with Type A do not have a substance (enzyme) called galactosamine-6-sulfatase.
  • Persons with Type B do not produce enough of an enzyme called beta-galactosidase.

The body needs these enzymes to break down a long strand of sugar molecules called the keratan sulfate sugar chain. In both types, abnormally large amounts of glycosaminoglycans build up in the body, which can damage organs.

The syndrome is estimated to occur in 1 of every 200,000 births. Symptoms usually start between ages 1 and 3. A family history of the syndrome raises one's risk for the condition.

Symptoms

Exams and Tests

The doctor will perform a physical examination. Examination and testing may reveal:

Urine tests are usually done first. These tests may show extra mucopolysaccharides, but they can't determine the specific form of MPS.

Other tests may include:

Persons with Morquio syndrome should have MRI of the lower skull and upper neck to determine if the upper vertebrae are underdeveloped.

Treatment

There is no specific treatment for Morquio syndrome. Researchers are currently testing a possible treatment involving enzyme replacement.

Symptoms are treated as they occur. A spinal fusion may prevent permanent spinal cord injury in persons whose neck bones are underdeveloped.

Support Groups

National MPS Society --www.mpssociety.org

Outlook (Prognosis)

Cognitive (thinking) function is usually normal in patients with Morquio syndrome.

Bone problems can lead to significant complications. For example, the small bones at the top of the neck may slip and damage the spinal cord, causing paralysis. Surgery to correct such problems should be done if possible.

Heart (cardiac) complications may lead to death.

Possible Complications

  • Breathing problems
  • Heart failure
  • Spinal cord damage and possible paralysis
  • Vision problems
  • Walking problems related to abnormal curvature of the spine and other bone problems

When to Contact a Medical Professional

Call your health care provider if symptoms of Morquio syndrome occur.

Prevention

Genetic counseling is recommended for prospective parents with a family history of Morquio syndrome. Counseling is also recommended for families who have a child with Morquio syndrome to help them understand the condition and possible treatments. Prenatal testing is available.

References

National Institute of Neurological Disorders and Stroke. Mucolipidoses Fact Sheet. Office of Communications and Public Liaison. Bethesda, MD; Publication No. 03-5115. February 13, 2007.

Wraith JE. Mucopolysaccharidoses and oligosaccharidoses. In: Saudubray J-M, van den Berghe G, Walter JH, eds. Inborn Metabolic Diseases: Diagnosis and Treatment. 5th ed. New York, NY: Springer; 2012:chap 40.


Review Date: 5/7/2013
Reviewed By: Chad Haldeman-Englert, MD, FACMG, Wake Forest School of Medicine, Department of Pediatrics, Section on Medical Genetics, Winston-Salem, NC. Review provided by VeriMed Healthcare Network. Also reviewed by David Zieve, MD, MHA, Bethanne Black, and the A.D.A.M. Editorial team.
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