Context: Recently, India’s first patient diagnosed with the Pompe disease died after spending nearly six years in a semi-comatose state.

Background

• In 2010, Prasanna Shirol established the Organisation for Rare Diseases India, the country’s first NGO dedicated to rare diseases.

• His motivation stemmed from his daughter’s experience with Pompe disease, driving him to provide support and information for others facing similar challenges.

Pompe Disease

• About: It ?is a rare genetic disorder caused by a deficiency of the enzyme acid alpha glucosidase (GAA) that causes progressive weakness to the heart and skeletal muscles.

• This enzyme is crucial for breaking down glycogen into glucose within the lysosomes of cells.

• Caused by: Mutations in a gene that makes an enzyme called acid. alpha-glucosidase (GAA), which the body uses to break down glycogen, a stored form of sugar used for energy.

• Pompe disease happens when your body can't make a protein that breaks down a complex sugar, called glycogen, for energy. Too much sugar builds up and damages your muscles and organs.

• Prevalence of disease: Its prevalence estimates range from 1 in 40,000 to 1 in 300,000 births. It occurs across diverse ethnicities and populations.

• This disease can be:

• Infantile-onset: symptoms begin in the first few months after birth.

• Late-onset or delayed-onset: symptoms appear later in childhood or in adulthood.

• It affects males and females equally.

• Symptoms: Trouble eating and not gaining weight, Poor head and neck control, Rolling over and sitting up later than expected, Breathing problems and lung infections, Enlarged and thickening heart or heart defects and Enlarged liver.

• Diagnosis: Enzyme tests, often performed on blood or skin cells, provide crucial insights into GAA deficiency. Genetic analysis confirms the presence of specific mutations associated with Pompe Disease.

• Treatment

• There is currently no cure for Pompe disease. But there are treatment options available to manage symptoms and improve the patient’s quality of life.

• Enzyme Replacement Therapy (ERT) is a standard treatment. It involves the infusion of the missing enzyme to alleviate glycogen buildup.