Morquio syndrome is a rare metabolic disorder characterized by the inability to break down long chains of sugars. These chains build up in the body, causing damage to the organs and brain since they cannot be eliminated. It is considered to be a disorder of carbohydrate metabolism. There is no cure for Morquio syndrome, with treatment focused on managing symptoms as they occur. Incidence rates vary by population and statistics are not terribly reliable. Estimates of frequency include one in every 40,000 births, one in every 75,000 births, and one in every 200,000 births.
This metabolic disorder is a recessive genetic condition. In order to develop Morquio syndrome, someone must inherit the gene from both parents. Parents will generally be asymptomatic carriers because they have a working gene which overcomes the Morquio gene. Two types are recognized, with one being distinguished by complete lack of production of a necessary enzyme, and the other with an enzyme deficiency. In both cases, the inadequate enzyme production means that the body lacks the tools it needs to process long sugars.
Also known as mucopolysaccharidosis IV, Morquio syndrome was first identified in the 1920s. One of the defining characteristics is dwarfism, common to all patients. People also develop joint hypermobility, enlarged fingers, widely spaced teeth, and enlarged rib cages which can take on a bell shape. Spinal and heart abnormalities are common in people with Morquio syndrome, and people can be at risk of progressive damage. People with a family history of Morquio syndrome should consider the fact that they may be carriers of the gene even if they do not have any symptoms.
Common issues people which Morquio syndrome face include heart failure, vision problems, and instability of the spine which can lead to difficulty walking and discomfort in some positions. People are also at risk of organ damage and failure caused by the buildup of long chains of sugars. The dwarfism associated with this condition can also be socially awkward for some patients, as they may not feel comfortable in society due to the attention attracted by their stature.
Treatment for Morquio syndrome is focused on managing symptoms and identifying complications quickly so that they can be treated. Patients can consult several different doctors for assistance with managing the condition, and various treatment options including prophylactic steps such as spinal fusion are available. When selecting a doctor to manage treatment, it is advisable to find one who has experience working with patients who have this condition.