Context: Recently, India’s first Pompe disease patient passed away after battling the disease.  

Pompe Disease: What is it? Its Symptoms and Prevalence

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). 

• • GAA: This enzyme is crucial for breaking down glycogen into glucose within the lysosomes of cells.

• Prevalence: Its prevalence estimates range from 1 in 40,000 to 1 in 300,000 births. It occurs across diverse ethnicities and populations with varying ages of onset and severity. 
• Symptoms of Pompe Disease:
  • Muscle Weakness: Progressive muscle weakness affects both skeletal and smooth muscles, leading to difficulties in mobility and daily activities. 
  • Motor Skill Delay: Children with the disease may experience delays in achieving motor skills, such as sitting, crawling, and walking. 
  • Degenerative Impact on Bones: Prolonged muscle weakness and reduced mobility can degenerate bones, leading to joint contractures and skeletal deformities.
  • Respiratory Complications: Due to the weakening of respiratory muscles, patients may experience shortness of breath, respiratory infections, and even respiratory failure.
  • Hypertrophic Cardiomyopathy: It is characterized by the thickening of the heart muscle walls. This can lead to impaired heart functions and cardiovascular symptoms.
• Curability: While there is currently no cure for Pompe disease, 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.

News Source: IE