Mucopolysaccharidosis: Treatment, Procedure, Cost and Side Effects

Mucopolysaccharidosis is a condition where a group of lysosomal diseases occur due to deficiency of a certain kind of enzyme in our body. It is a dieases associated with an enzyme called glycosaminoglycans (GAGs) which hampers the building of bones, cartilages, tendons and connective tissues. In this type of the condition the person fails to produce enough enzymes that help to break down the sugar substances in our body into simpler particles. In this type of condition, even if the enzymes are secreted then the enzymes do not work properly which results in cellular damage, physical capabilities, proper organ system functioning and most cases it is also seen that there is not proper mental development as well. There are seven distinct types of mucopolysaccharidosis named from Stage I to Stage VII. These are mainly caused by an autosomal recessive gene which is inherited from each parent. These alter the facial patterns of our body which leads to a deformed skeletal shape altogether. The mutation in the genes leads to cause symptoms like deformed facial structure which can be detected from the age group of 3 to 6 months. You can see the patients having an enlarged head and mouth with thick lips, retinal degeneration, deformed body structure etc. The genetic mutations on your chromosome 4 lead to the deficiency of lysosomal enzymes which interfere with the proper functioning.

Till this date there is no cure for mucopolysaccharidosis but there are certain treatement facilities that improve the condition and edges out some of the symptoms. Allogenic bone marrow transplantation (BMT) is the most common source of treatment for this condition along with allogenic hematopoietic SCT which enables prolonged survival and eliminates ventricular hypertrophy and it also helps to improve the cardiac performance. Cell therapy is another common form of treatment where the therapy helps to develop cells that replace the damaged cells in order to secrete the enzymes and eliminate lysosomal disorders. There is also a form of enzyme replacement therapy (ERT) which involves regular infusion of additional enzymes that replace the damaged enzymes or help to produce new ones. There are certain symptom based treatments which means that the treatment increments along with the symptoms that you face. For eg. if you face corneal clouding you need corneal transplant and corrective lenses, for dental deformation, gum massages and antibiotics, for deformed joints you need physical therapy (physiotherapy) and hydrotherapy for stiffness and pain, you might also need splints to re position the joints and prevent the deformation again. Many cases require surgical care. Surgical care takes care of hernia, adenotonsillectomy, carpal tunnel release, also heart valve replacements to improve cardiac productivity.

Sometimes with the surgeries and injecting enzymes you might face some cardiac problems as your heart sometimes is incapable of the additional enzymes which the body has to produce. The treatment of mucopolysaccharidosis might lead to vocal infections.

It can't be cured completely, as it is a genetic disorder. However, there are many techniques coming up, Gene Therapy helps eradicate the disease for some extent.

It costs 10-20 lakhs approximately.

Through BMT and Gene therapy, patient can eradicate the syndrome. Depending on the part of the body affected, there is the chance for the complete cure. However, few behavioural changes remain forever.