Pompe disease

• India’s first Pompe disease patient, passed away last month at the age of 24 years after battling the disease.
• In 2010, her father had started the Organisation for Rare Diseases India (ORDI), the first NGO in the country for rare diseases.

ABOUT POMPE DISEASE

• Also known as Glycogen Storage Disease Type II, Pompe disease is a rare genetic disorder caused by a deficiency of the enzyme acid alpha-glucosidase (GAA).
  • This enzyme is crucial for breaking down glycogen into glucose within the lysosomes of cells.
• Its prevalence estimates range from 1 in 40,000 to 1 in 300,000 births.
• It occurs across diverse ethnicities and populations.
• The age of onset and severity can vary.
• Key symptoms
  • Progressive muscle weakness is a primary feature of Pompe disease. It affects both skeletal and smooth muscles, leading to difficulties in mobility and daily activities.
  • Motor skill delay in children
  • Degenerative impact on bones leading to joint contractures and skeletal deformities.
  • Respiratory complications due to weakening of respiratory muscles, including the diaphragm.
  • Cardiac involvement
• Enzyme assays are conducted to measure the activity of acid alpha-glucosidase (GAA), the deficient enzyme.
  • Genetic testing identifies mutations in the responsible GAA gene.
• There is currently no cure for Pompe disease.
  • However, there are treatment options available to manage symptoms and improve the patient’s quality of life.
  • Enzyme Replacement Therapy (ERT) is a standard treatment, involving the infusion of the missing enzyme to alleviate glycogen buildup.