1. India’s first Pompe disease patient Nidhi Shirol, passed away recently at the age of 24 years. Consider the following statements regarding Pompe disease:
- Pompe disease is a rare genetic disorder caused by a deficiency of the enzyme acid alpha-glucosidase (GAA)
- Children with the disease may experience delays in achieving motor milestones, such as sitting, crawling, and walking.
- Enzyme Replacement Therapy (ERT) is a standard treatment, which can cure this disease completely.
Which of the statements given above are correct?