What is Pompe disease?

Table of Contents☰

About Pompe disease

It is a rare inherited disorder that affects one child per million.
Causes
- 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.

Source: Being Nidhi’s parents: A 24-year journey of joy and struggles with India’s ‘first’ Pompe disease patient