POMPE
DISEASE - SCI & TECH
News:
India’s
first patient of Pompe disease passes away
What's
in the news?
●
Nidhi Shirol, India’s first Pompe disease
patient has passed away at the age of 24 years.
Pompe Disease:
●
It is a rare genetic disorder 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.
●
Also known as Glycogen Storage Disease Type II.
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 centres 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
Symptoms:
●
Muscle weakness
●
Respiratory issues
●
Heart problems
●
Difficulty swallowing
Diagnosis:
●
Measuring GAA activity in the blood and
genetic testing to confirm mutations in the GAA gene.
Treatment:
●
The treatment includes Enzyme Replacement Therapy (ERT).