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Alternative NamesMucopolysaccharidosis 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.
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 (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 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. Counseling is also recommended for families who have a child with Morquio syndrome, to help them understand the condition and possible treatments.
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: 5/11/2009 Updated by: Diana Chambers, MS, EdD, Certified Genetics Counselor (ABMG), Charter Member of the American Board of Genetic Counseling, University of Tennessee, Memphis, TN. Review provided by VeriMed Healthcare Network. Also reviewed by David Zieve, MD, MHA, Medical Director, A.D.A.M., Inc.