Pompe Disease

Understanding Pompe Disease

Pompe disease, also known as glycogen storage disease type II, is a rare genetic disorder caused by a deficiency of the enzyme acid alpha-glucosidase (GAA). This enzyme plays a critical role in breaking down glycogen into glucose within lysosomes. Inadequate levels of GAA lead to glycogen accumulation in muscles, which results in progressive muscle weakness and respiratory complications.

Pompe disease is generally classified into three main forms:

• Infantile-Onset Pompe Disease (IOPD):
  Symptoms appear in infancy, often including severe muscle weakness, an enlarged heart (cardiomegaly), and respiratory failure.

• Late-Onset Pompe Disease (LOPD):
  Symptoms manifest later in childhood, adolescence, or adulthood, primarily affecting skeletal and respiratory muscles, leading to gradual deterioration in muscle function.

• Non-Classical Infantile-Onset:
  Similar to IOPD but with a slower progression and less severe involvement of the heart.

Common Signs and Symptoms of Pompe Disease:

• Muscle Weakness: Progressive loss of muscle strength, which may affect mobility and daily activities.
• Respiratory Difficulties: Breathing challenges that may worsen over time, often due to weakened respiratory muscles.
• Cardiac Issues: In the infantile-onset form, heart enlargement and related complications can occur.
• Fatigue: Persistent tiredness and decreased endurance during physical activity.
• Feeding and Growth Challenges: In infants, difficulties with feeding and failure to thrive may be evident.

This information is provided as a resource and is not intended to diagnose a condition or prescribe treatment. Please discuss any symptoms you may exhibit with your physician.