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:
Mucopolysaccharidosis type IVA; Galactosamine-6-sulfatase deficiency; Mucopolysaccharidosis type IVB; Beta galactosidase deficiency; MPS IV
Causes, incidence, and risk factorsMorquio 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.
SymptomsThe 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.
TreatmentThere 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 GroupsNational MPS Society --www.mpssociety.org
Expectations (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.
ComplicationsCall your health care provider if symptoms of Morquio syndrome occur.
PreventionGenetic 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.
ReferencesNational Institute of Neurological Disorders and Stroke. Mucolipidoses Fact Sheet. Office of Communications and Public Liaison. Bethesda, MD; Publication No. 03-5115. February 13, 2007.
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:
Mucopolysaccharidosis type IVA; Galactosamine-6-sulfatase deficiency; Mucopolysaccharidosis type IVB; Beta galactosidase deficiency; MPS IV
Causes, incidence, and risk factorsMorquio 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.
SymptomsThe 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.
TreatmentThere 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 GroupsNational MPS Society --www.mpssociety.org
Expectations (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.
ComplicationsCall your health care provider if symptoms of Morquio syndrome occur.
PreventionGenetic 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.
ReferencesNational Institute of Neurological Disorders and Stroke. Mucolipidoses Fact Sheet. Office of Communications and Public Liaison. Bethesda, MD; Publication No. 03-5115. February 13, 2007.
Reviewed ByReview Date: 05/15/2011
Chad Haldeman-Englert, MD, Wake Forest School of Medicine, Department of Pediatrics, Section on Medical Genetics, Winston-Salem, NC. Review provided by VeriMed Healthcare Network. Review provided by VeriMed Healthcare Network. Also reviewed by David Zieve, MD, MHA, Medical Director, A.D.A.M., Inc.
Morquio Syndrome. An example of this is in Freak The Mighty and Kevin is only about 2 feet tall and his heart gets too big for his body.
why do people get morquio syndrone
Luis Morquio
in 1894
In 1929, by Luis Morquio.
Morquio Syndrome was first decribed by Luis Morquio of Montevideo, Uruguay and also described by James Fredrick Brailsford.
It depends if he gets marry to a female suffering from morquio syndrome then in this case each child will have 50% chance of having morquio the other side if he marries with normal female then non of his child will suffer from morquio syndrome, but there will be 25% chance that the child carry morquio syndrome gene.
yes it is a very little chance you will get morquio syndrome in many cases
Less then a few hundred people on earth at a time have morquio syndrome.
the person who researched it was named Luis morquio
There is no way to be absolutely positive that your child will not have Morquio's syndrome if both parents have the gene, but there are genetic screenings to help prevent having a child with Morquio's syndrome.
Morquio syndrome is contracted when both your parents have it. if a descendant of your family has it, such as a grandparent or aunt or a uncle your risks of getting it is more likely. Morquio syndrome only happens about 1 out of every 200,000 births.