Pompe Disease

Pompe Disease

Subject : S&T

Section: Health

Context: India’s first Pompe disease patient passes away

What is Pompe Disease:

• Pompe disease, also called Glycogen Storage Disease Type II, is a rare genetic disorder resulting from a deficiency of the enzymeacid alpha-glucosidase (GAA).
• This enzyme is essential for breaking down glycogen into glucose within the lysosomes of cells.
• The prevalence of Pompe disease varies, with estimates ranging from 1 in 40,000 to 1 in 300,000 births.
•  It occurs in diverse ethnicities and populations, with varying ages of onset and severity, leading to a spectrum of clinical presentations.

How does Pompe disease affect an individual:

• Pompe disease exhibits varying degrees of severity and symptom progression among individuals.
• Key symptoms include progressive muscle weakness affecting both skeletal and smooth muscles, leading to mobility challenges and difficulties in daily activities. 
• Motor skill delays, particularly in achieving milestones like sitting, crawling, and walking, are common in affected children.
• Prolonged muscle weakness can result in bone degeneration, causing joint contractures and skeletal deformities.
• Respiratory complications, including weakened respiratory muscles and potential breathing difficulties, are prevalent, especially during physical exertion or while lying down.
• Cardiac involvement may occur, leading to symptoms like heart palpitations, fatigue, and chest pain, with the possibility of hypertrophic cardiomyopathy—thickening of heart muscle walls.
• The disease’s impact on daily living is significant, as patients may face challenges in performing routine activities independently. Assistive devices such as wheelchairs and respiratory support equipment may become necessary for those affected by Pompe disease.

How is Pompe disease diagnosed:

• The diagnosis of Pompe disease employs a comprehensive approach involving various assessments:
  • Enzyme Assays: These tests measure the activity of acid alpha-glucosidase (GAA), the enzyme deficient in Pompe disease. Enzyme assays are often conducted on blood or skin cells to evaluate GAA activity levels.
  • Genetic Testing: Genetic analysis is performed to identify specific mutations in the GAA gene associated with Pompe disease. This helps confirm the genetic basis of the condition.
  • Clinical Evaluations: Healthcare professionals consider the patient’s symptoms and medical history as part of the diagnostic process. Clinical assessments contribute valuable information to the overall diagnosis.
• The combination of enzyme assays, genetic testing, and clinical evaluations allows for an accurate and comprehensive diagnosis of Pompe disease. This approach is crucial for timely intervention and effective disease management.

Is Pompe disease curable:

• Pompe disease currently lacks a cure, but there are available treatment options aimed at managing symptoms and enhancing the patient’s quality of life.
• Enzyme Replacement Therapy (ERT) is a well-established treatment approach, involving the infusion of the deficient enzyme to reduce glycogen accumulation and address the underlying enzymatic deficiency.