India’s first Pompe disease patient passes away

What’s in today’s article?

• Why in news?
• Pompe disease
• What is Pompe Disease?
• How does Pompe disease affect an individual?
• How is Pompe disease diagnosed?
• Is Pompe disease curable?

Why in news?

• Nidhi Shirol, India’s first Pompe disease patient, passed away last month at the age of 24 years after battling the disease.
• She spent the last six years in a semi-comatose state.

What is Pompe Disease?

• Also known as Glycogen Storage Disease Type II, Pompe disease is a rare genetic disorder.
• It is caused by a deficiency of the enzyme acid alpha-glucosidase (GAA).
  • This enzyme is crucial for breaking down glycogen into glucose within the lysosomes of cells.
• Its prevalence estimates range from 1 in 40,000 to 1 in 300,000 births. It occurs across diverse ethnicities and populations.

How does Pompe disease affect an individual?

• Muscle weakness:
  • Progressive muscle weakness is a primary feature of Pompe disease.
  • It affects both skeletal and smooth muscles, leading to difficulties in mobility and daily activities.
  • Weakness in the respiratory muscles can result in breathing difficulties, especially during physical exertion or even while lying down.
• Motor skill delay:
  • Children with the disease may experience delays in achieving motor milestones, such as sitting, crawling, and walking.
  • The degree of motor skill delay can vary, and some individuals may never attain certain motor milestones.
• Degenerative impact on bones:
  • Prolonged muscle weakness and reduced mobility can have a degenerative impact on bones, leading to joint contractures and skeletal deformities.
• Respiratory complications:
  • The weakening of respiratory muscles, including the diaphragm, can have an impact.
  • Patients may experience shortness of breath, respiratory infections, and in severe cases, respiratory failure.
• Cardiac involvement:
  • In some cases, Pompe disease can affect the heart muscles, leading to complications.
  • Symptoms such as heart palpitations, fatigue, and chest pain, may manifest.
• Hypertrophic cardiomyopathy:
  • Pompe disease can cause hypertrophic cardiomyopathy, characterised by the thickening of the heart muscle walls.
  • This can lead to impaired heart functions and cardiovascular symptoms.
• Implications for daily living:
  • Patients may face challenges in performing daily activities independently due to muscle weakness and respiratory limitations.
  • Assistive devices such as wheelchairs and respiratory support equipment may become necessary.

How is Pompe disease diagnosed?

• It involves a multi-faceted approach.
• Enzyme assays are conducted to measure the activity of acid alpha-glucosidase (GAA), the deficient enzyme.
  • Enzyme tests, often performed on blood or skin cells, provide crucial insights into GAA deficiency.
• Genetic testing identifies mutations in the responsible GAA gene.
  • Genetic analysis confirms the presence of specific mutations associated with Pompe Disease.
• The combination of these diagnostic tools enables healthcare professionals to accurately identify and confirm the disease.

Is Pompe disease curable?

• While there is currently no cure, 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.
  • ERT is a medical treatment that replaces a missing or deficient enzyme in the body.

Q1) What is Glycogen storage disease type II (GSD2)?

Glycogen storage disease type II (GSD2), also known as Pompe disease, is a metabolic disorder that causes glycogen to build up in muscle tissue. It's caused by a deficiency of the enzyme α-glucosidase.

Q2) What is Alpha-glucosidase?

Alpha-glucosidase is an enzyme that breaks down carbohydrates into monosaccharides, which can then be absorbed by the small intestine. It's located in the brush border of the small intestine.

Source: India’s first Pompe disease patient passes away: What is this rare genetic disorder?