Pompe disease, an inherited disorder, is caused by the build-up of a complex sugar called glycogen in the body’s cells. The accumulation of glycogen in certain organs and tissues, especially muscles, impairs their ability to function normally. It is often categorized as a lysosomal storage disorder (LSD) or glycogen storage disease.
Sources say it afflicts one out of 40,000 people and an estimated 5,000 to 10,000 people are affected by this disorder globally.
Characterised by muscle weakness, the condition can be life-threatening. The treatment for this disease costs around Rs 80 lakh to Rs 1 crore in India. City-based surgeons, doctors and patients’ family members have now demanded the government’s intervention to declare to treat this case on par with AIDS and Cancer.
Researchers have described three types of Pompe disease, which differ in severity and the age at which they appear. These types are known as classic infantile-onset, non-classic infantile-onset, and late-onset.
Pompe is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but do not show symptoms.
Dr S J Patil, consultant, Naryana Hrudayalaya Institute of Medical Sciences, says, “A rare genetic muscular disorder, Pompe is caused by the deficiency of an enzyme called acid alpha-glucosidase in the body. This enzyme processes glycogen and converts it into sugar that energizes the body. Deficiency of this enzyme causes muscular weakness that accelerates as the child grows. Enzyme replacement therapy is a safe therapy to treat Pompe.”
Prasanna Kumar Shirol, founder of Lysosomal Storage Disorders Supporting Society says, “We aim to develop a support group for LSD patients. Diagnosis of Pompe is difficult, as there is no proper treatment due to low awareness.”