Morquio Syndrome is a disease classified as mucopolysaccharidoses (MPS). Morquio syndrome is under the classication MPS III because it is a disease that is an autosomal recessive trait. This means that both parents have to pass the disease to their child for he or she to have Morquio Syndrome. Similar to other diseases of the mucopolysaccharidoses variety, Morquio Syndrome exists because of the carriers inability to produce an enzyme or two that help in the break down of complex sugar molecules known as glycosaminoglycans. These glycosaminoglycans are the components to mucus production in humans. Too much mucus without the ability to break it down can cause serious issues.
Morquio Syndrome comes in two types. Type A Morquio Syndrome is caused by the lack of production of an enzyme known as galactosamine-6-sulfatase. Type B Morquio Syndrome is the result of the nonproduction of an enzyme called beta-galactosidase. These two enzymes help in the break down of long strands of sugar molecules called the keratan sulfate sugar chain. The abscence of the enzymes results in mass production of this partcular glycosaminoglycan that can cause serious damge to internal organs including the heart and brain.
The symptoms of Morquio Syndrome start to develop between the ages of 1 and 3. Only one child in 200,000 get this autosomal recessive disease, but the ones that two can suffer from serious symptoms. Abnormal development of the bones and spine is a common symtpom. A bell shaped trunk, spaced teeth, short stature, abnormal facial features, knock knees, hypermobile joints, and a huge head are also very common.
After testing, doctors can find heart murmurs, enlarged liver, cornea issues with cloudyness, and severe nervous functional problems. Unfortunately there is no set treatment for Morquio Syndrome. Doctors just treat each symptom as they occur. There are genetic screenings to help prevent having a child with the autosomal recessive Morquio Syndrome however.