What is Pompe Disease?

December 8, 2023

In 2010, Prasanna Shirol, father of a child with Pompe disease, initiated the Organisation for Rare Diseases India (ORDI), the first NGO in the country dedicated to rare diseases. His endeavor aimed at creating awareness, support, and resources for those affected by rare genetic disorders.

Unveiling Pompe Disease

Pompe Disease, also known as Glycogen Storage Disease Type II, is a rare genetic disorder resulting from a deficiency of the enzyme acid alpha-glucosidase (GAA). This enzyme plays a crucial role in breaking down glycogen into glucose within cell lysosomes. With prevalence estimates ranging from 1 in 40,000 to 1 in 300,000 births, the disease spans across diverse ethnicities and populations.

How does Pompe Disease Affect an Individual?

The severity and progression of Pompe disease symptoms can vary, leading to a spectrum of clinical presentations. Key symptoms include:

Muscle Weakness: Progressive muscle weakness affecting both skeletal and smooth muscles, impacting mobility and daily activities.
Motor Skill Delay: Children may experience delays in achieving motor milestones like sitting, crawling, and walking.
Bone Degeneration: Prolonged muscle weakness can result in joint contractures and skeletal deformities.
Respiratory Complications: Weakening of respiratory muscles can lead to breathing difficulties and, in severe cases, respiratory failure.
Cardiac Involvement: Some cases may manifest symptoms like heart palpitations, fatigue, and chest pain, indicating heart muscle complications.

Challenges in Daily Living

Patients may encounter challenges in performing daily activities independently due to muscle weakness and respiratory limitations. The need for assistive devices like wheelchairs and respiratory support equipment may arise.

How is Pompe Disease Diagnosed?

Diagnosing Pompe disease involves a comprehensive approach:

Enzyme Assays: Measure acid alpha-glucosidase (GAA) activity, the deficient enzyme.
Genetic Testing: Identifies mutations in the responsible GAA gene.
Clinical Evaluations: Consider patient symptoms and medical history.
Enzyme Tests: Performed on blood or skin cells, providing insights into GAA deficiency.
Genetic Analysis: Confirms specific mutations associated with Pompe Disease.

The integration of these diagnostic tools enables healthcare professionals to accurately identify and confirm the disease, facilitating timely intervention and management.

Is Pompe Disease Curable?

While there is currently no cure for Pompe disease, Enzyme Replacement Therapy (ERT) serves as a standard treatment. This involves infusing the missing enzyme to alleviate glycogen buildup, effectively managing symptoms and enhancing the patient’s quality of life.

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