Recently, India’s first patient diagnosed with the Pompe disease died after spending nearly six years in a semi-comatose state.
About Pompe disease
- It is a rare inherited disorder that affects one child per million.
- Mutations in the GAA gene cause Pompe disease.
- The GAA gene provides instructions for producing an enzyme called acid alpha-glucosidase (also known as acid maltase).
- This enzyme is active in lysosomes, which are structures that serve as recycling centers within cells.
- The enzyme normally breaks down glycogen into a simpler sugar called glucose, which is the main energy source for most cells.
- Mutations in the GAA gene prevent acid alpha-glucosidase from breaking down glycogen effectively, which allows this sugar to build up to toxic levels in lysosomes.
- This buildup damages organs and tissues throughout the body, particularly the muscles, leading to the progressive signs and symptoms of Pompe disease.
- Some common side effects and symptoms include muscle weakness, respiratory issues, heart problems and difficulty swallowing.
- This disease can be:
- Infantile-onset: symptoms begin in the first few months after birth.
- Late-onset or delayed-onset: symptoms appear later in childhood or in adulthood.
- It affects males and females equally.
- Treatment: The treatment includes enzyme replacement therapy (ERT).
Q1) What is enzyme?
An enzyme is a biological catalyst and is almost always a protein. It speeds up the rate of a specific chemical reaction in the cell. The enzyme is not destroyed during the reaction and is used over and over.