Mucopolysaccharidosis type IVA or Galactosamine-6-sulfatase deficiency or Beta galactosidase deficiency and also as Mucopolysaccharidosis type IVB. It is a disorder that is rare and is inherited. This disorder is characterized by accumulation of a substance called mucopolysaccharides also known as glycosaminoglycans in the various tissues of the body. This accumulated substance needs to be metabolised or broken down and this is done by an enzyme which is called galactosamine-sulfate - type A or / and galactosidase – type B. Insufficient amounts of this enzyme causes this disorder; in simpler terms the deficiency of this enzyme hampers the break down of a long chain of sugar molecules. It belongs to a Morquio Syndrome group known as mucopolysaccharidoses and is known specifically as MPS IV.
The symptoms and signs of Morquio Syndrome are known to be but are not limited to an abnormal development of the bones which includes an abnormal curvature of the spine, the presence of a bell shaped chest and ribs which are flared out to the of the ribcage, dwarfism, facial features which are coarse, knock- knees, macrocephaly which is also called a large head, abnormality in the teeth such as teeth that are widely spaced, small teeth or a broad mouth, shortness of stature, particularly a person having a short trunk, etc.
Tests and physical examination may also include and reveal besides the abnormal spinal curvature, cloudiness of the cornea, enlargement of the liver and loss of function of the nerves below the neck area.
In most patients, the cognitive (thinking) function is normal. However Bone problems may lead to complications that are significant. For instance, some of the small bones that are present at the top part of the neck tend to slip and therefore cause damage to the spinal cord which may cause paralysis. In these cases, surgery may be recommended to help correct this problem.
Patients of Morquio Syndrome develop many complications such as breathing problems, Heart (cardiac) complications which may lead cardiac failure and then death, Damage to the spinal cord and a possibility of paralysis and also in some cases problems of vision. Due to the damage caused related to the abnormal curvature in the spine, walking problems and other such bone problems may also occur.
Morquio syndrome is a trait that can be congenital and passed on from parent to child. Which means that the defective gene could be passed on from the parent to the child.
It could also be due to the lack of or deficient production of the enzyme called beta-galactosidase. This is the enzyme that the body requires for the break down of the long strand of molecules of sugar which are known as the keratan sulfate sugar chain. In both these cases, an abnormally large amount of a substance called glycosaminoglycans builds up in the human body and sometimes also the brain, which may result in the damage of the organs.
This syndrome is said to occur in an estimated 1 out of every 200,000 births. The Symptoms are known to usually start from between the ages of 1 and 3 years. Risk of this condition is raised if there is a family history of this syndrome.
There are a few techniques in the prevention of Morquio Syndrome which involves genetic counselling. This is mostly suggested to parents who have suffer from a family history which shows signs of morquio syndrome. When a family has a child with Morquio Syndrome, Conselling is recommended so that it helps them to understand the condition better and also the possible treatments available and the management of the condition.
In the case of Morquio syndrome, there are hardly any types of specific treatment available. These symptoms are simultanously treated whenever a patient suffers from it. In cases where it may be beneficial to the patient, a spinal fusion may be recommended to prevent irreversible injury to the spinal cord particularly in patients who have underdeveloped neck bones. Support groups which help and encourage the patient and families to manage the condition better are used to augment the medical treatment of this Morquio Syndrome.