There is an inherited metabolism disease called Morquio syndrome. The body lacks of substance to shatter sugar molecules – glycosaminoglycans and causes many dysfunctions in one person. Morquio syndrome attaches to a diseases group MPS IV or mucopolysaccharidoses. There other similar kind of diseases such as MPS I S -Scheie syndrome, MPS I H-Hurler syndrome, MPS II, Hunter syndrome and MPS III -Sanfilippo syndrome. In Morquio syndrome mortality and morbidity rates are primarily related to the atlantoaxial instability and subsequent cervical myelopathy. A minor fall or extension of the neck can result in cord transection and subsequent quadriparesis or death.
Causes of Morquio Syndrome
Such inherited syndrome ca be inherited only if both parents have the faulty genes. Morquio syndrome can develop in 2 forms Type A and Type B. Type A has no enzyme- (it is a substance) galactosamine-6-sulfatase and Type B do not breed sufficient enzyme- beta-galactosidase. Enzymes are necessary to shatter keratin sulfate sugar chain, sugar molecules. Too much glycosaminoglycan participated in brain or body may impair internal organs. But the syndrome is not really common and it appears in 1 of 200 000 infants. First symptoms are coming out in ages 1-3.
Symptoms
The usual symptoms of Morquio syndrome are knock-knees, too big head, too spaced teeth, short stature, funny shaped chest, abnormal development of spine and bones, coarse features of the face, hyper mobile joints, etc.
Tests
Testing for Morquio syndrome may reveal dysfunctions that include liver enlargement, inguinal hernia, kyphoscoliosis, heart murmur, cloudy cornea, loss of nerve and short trunk. And with urine test a Morquio syndrome may reveal too much mucopolysaccharides, but can not reveal form of MPS. Tests that need to be done in order to reveal Morquio syndrome are genetic testing, slit-lamp eye exam, bones, ribs, and spine X-rays, fibroblast culture of skin, echocardiogram blood culture and hearing test.
Treatments
There is an appropriate treatment for Morquio syndrome that comes with symptoms. Treatment of Morquio syndrome is a spinal fusion (for irreversible spinal cord injury), right prognosis, potential surgery for potential damaged bone, cardiac problems consultations, and joining the support group. There are possible complications involve Morquio syndrome such as: vision problems, heart failure, breathing problems, spinal cord impairment and walking problems.
The Prevention
It is necessary for doctor to check family history to have genetic counseling because both parents are involved with Morquio syndrome. Children also need to understand what Morquio syndrome really is. Other names for the same syndrome are Galactosamine-6-sulfatase deficiency, MPS IV, Mucopolysaccharidosis type IVB Mucopolysaccharidosis type IVA and Beta galactosidase deficiency.
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