India’s first Pompe disease patient passes away

• Recently, India's first Pompe disease patient, passed away at the age of 24 after a prolonged battle with the disease.
• Her father founded the Organisation for Rare Diseases India (ORDI) in 2010, the first NGO in India dedicated to rare diseases.

Pompe Disease

• Also known as Glycogen Storage Disease Type II, it is a rare genetic disorder resulting from a deficiency of the enzyme acid alpha-glucosidase (GAA).
• The enzyme is essential for breaking down glycogen into glucose within cell lysosomes.
• Prevalence estimates range from 1 in 40,000 to 1 in 300,000 births, occurring across diverse ethnicities.

Impact on Individuals

• The severity and onset of Pompe disease symptoms vary, leading to a spectrum of clinical presentations.
• Key symptoms include progressive muscle weakness affecting mobility, motor skill delays in children, degenerative impacts on bones, respiratory complications etc.

Diagnosis

• Diagnosing Pompe disease involves a multi-faceted approach.
• 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.
• Clinical evaluations consider the patient’s symptoms and medical history.
• Enzyme tests on blood or skin cells, along with genetic analysis, help accurately identify and confirm the disease, facilitating timely intervention.

Treatment

• Although there is no cure for Pompe disease, Enzyme Replacement Therapy (ERT) is a standard treatment.
• This involves infusing the missing enzyme to alleviate glycogen buildup, aiming to manage symptoms and improve the patient's quality of life.

Prelims Takeaway

• Pompe Disease
• National Policy for Rare Diseases 2021