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Morquio syndrome

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Alternative Names   

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

Definition    Return to top

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:

Causes    Return to top

Morquio syndrome is an autosomal recessive trait. That means both your parents must pass you the defective gene in order for you to get this disease.

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

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 and brain, 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    Return to top

Exams and Tests    Return to top

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    Return to top

There is no specific treatment for Morquio syndrome. Symptoms are treated as they occur.

A spinal fusion may prevent irreversible spinal cord injury in persons whose neck bones are underdeveloped.

Support Groups    Return to top

National MPS Society --www.mpssociety.org

Outlook (Prognosis)    Return to top

Cognitive 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.

Cardiac complications may lead to death.

Possible Complications    Return to top

When to Contact a Medical Professional    Return to top

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

Prevention    Return to top

Genetic counseling is recommended for prospective parents with a family history of Morquio syndrome.

References    Return to top

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.

Update Date: 7/1/2007

Updated by: Brian Kirmse, MD, Mount Sinai School of Medicine, Department of Human Genetics, New York, NY. Review provided by VeriMed Healthcare Network.

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