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    Morquio syndrome

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

    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:

    • MPS I H (Hurler syndrome)
    • MPS II, Hunter syndrome
    • MPS III (Sanfilippo syndrome)
    • MPS I S (Scheie syndrome)

    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

    • Abnormal development of bones, including the spine
    • Bell-shaped chest with ribs flared out at the bottom
    • Coarse facial features
    • Hypermobile joints
    • Knock-knees
    • Large head (macrocephaly)
    • Short stature with a particularly short trunk
    • Widely spaced teeth

    Exams and Tests

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

    • Abnormal curvature of the spine (kyphoscoliosis)
    • Cloudy cornea
    • Heart murmur (aortic regurgitation)
    • Inguinal hernia
    • Liver enlargement
    • Loss of nerve function below the neck
    • Short stature (especially short trunk)

    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:

    • Blood culture
    • Echocardiogram
    • Genetic testing
    • Hearing test
    • Slit-lamp eye exam
    • Skin fibroblast culture
    • X-rays of the long bones, ribs, and spine

    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.

    • 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.

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                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.

                The information provided herein should not be used during any medical emergency or for the diagnosis or treatment of any medical condition. A licensed medical professional should be consulted for diagnosis and treatment of any and all medical conditions. Links to other sites are provided for information only -- they do not constitute endorsements of those other sites. © 1997- A.D.A.M., Inc. Any duplication or distribution of the information contained herein is strictly prohibited.
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