Raise awareness of MPS-I: Experts

Abhishek, a Class X student from Jaipur, is overweight and short for his age. He feels exhausted even if he has to take a few steps. It is not because of the hot weather. He is not underfed either. He suffers from a rare disease called Mucopolysaccharidosis (MPS)-I. 

Leading experts from the city emphasise on the need to create an understanding regarding Mucopolysaccharidosis (MPS). They believe that there is an urgent need to raise awareness about the disorder and the importance of timely diagnosis and treatment. 

Mucopolysaccharidosis (MPS) is one of the most common Lysosomal Storage Disorders (LSDs) and is an acute condition wherein the body is unable to produce a specific type of enzyme. The absence of enzymes prevents cells from recycling waste, which ultimately leads to materials getting stored in the body cells. 

“The disease leaves the patients unable to do even simple daily tasks. With the progression of the disease, the condition of the patient deteriorates. It inflicts damage throughout the body, including the joints, bones, heart and the respiratory system,” Dr Ashok Gupta, Medical Superintendent, JK Lon Hospital told DNA. 

“There are different types of MPS — I, II, III, IV, V, VI & VII. There is a need to raise awareness about the disease and its various aspects, including symptoms and the treatment available,” Gupta added. The treatment, however, is expensive in the long run. 

According to experts, MPS, if not treated, leads to a life-threatening condition. Hence, it is important that the symptoms are recognised in time and the patients receive the required treatment. “Enzyme Replacement Therapy (ERT), the treatment available for MPS, has proved to be effective and has had a positive impact on the life of a patient,” said Dr Lalit Bharadia, Pediatric Gastroenterologist, Santokba Durlabhji Memorial Hospital. “We have patients who have received treatment and have immensely benefited from it. Efforts need to be made so that the rest of the patients do not suffer and are able to get immediate relief,” Dr Bharadia added.

ABOUT MPS

• MPS is part of a group of 45 rare LSDs, caused by the deficiency of lysosomal enzymes in cells. 
   
• One in every 5,000 children born in the world suffer from LSDs.
   
• Only six of the 45 LSDs are curable, including MPS I, MPS II and MPS VI.
   
• The treatment involves expensive enzyme replacement therapy.
   
• Intravenous infusion continues for entire life at regular intervals.
   
• Treatment cost varies between Rs10 lakh to Rs1.5 crore a year
   
• Cost of treatment depends on the patient’s weight and the type of LSD.