Short Description

Pompe disease is an autosomal recessive lysosomal storage disease due to deficiency of enzyme Alpha Glucosidase leading to primary glycogen storage. Infantile form of the disease is severe with hypotonia, cardiomyopathy & hepatosplenomegaly. Late onset form presents with slowly progressive myopathy with respiratory insufficiency. Enzyme replacement therapy prolongs life in infantile form and prevents deterioration in late onset form of the disease.

PreTest Information

Clinical history is mandatory.

Detail Description

POMPE DISEASE QUANTITATIVE BLOOD Test Cost INR 4000: Symptoms and Diagnosis

Pompe disease, also known as glycogen storage disease type II, is a rare genetic disorder that affects the muscles and the heart. It is caused by a deficiency in the enzyme acid alpha-glucosidase (GAA), which is responsible for breaking down glycogen in the body. As a result, glycogen accumulates in the muscle cells and leads to muscle weakness and respiratory problems.

The quantitative blood test for Pompe disease measures the level of GAA enzyme activity in the blood. This test is used to diagnose the disease and monitor the response to treatment. The cost of the test in India is typically around INR 4000.

Symptoms of Pompe Disease

The symptoms of Pompe disease can vary widely, depending on the age of onset and the severity of the condition. In infants, the disease is known as the infantile-onset form and can be life-threatening. Symptoms may include:

• Weakness in the muscles used for breathing, leading to respiratory problems
• Difficulty feeding and poor weight gain
• Muscle weakness and poor muscle tone
• Enlarged heart

In adults, Pompe disease is known as the late-onset form and is typically less severe. Symptoms may include:

• Muscle weakness and fatigue
• Difficulty breathing
• Enlarged heart
• Difficulty climbing stairs or standing up from a seated position

Diagnosis of Pompe Disease

Diagnosis of Pompe disease typically involves a combination of clinical evaluation, genetic testing, and enzyme activity testing. The quantitative blood test for GAA enzyme activity is a key diagnostic tool for the disease. A diagnosis of Pompe disease may be suspected if a patient presents with symptoms of muscle weakness, respiratory problems, and an enlarged heart. Genetic testing can confirm the diagnosis by identifying mutations in the GAA gene.

Conclusion

Pompe disease is a rare genetic disorder that can cause muscle weakness, respiratory problems, and an enlarged heart. The quantitative blood test for GAA enzyme activity is an important tool for diagnosing the disease and monitoring treatment. The cost of the test in India is typically around INR 4000. If you or someone you know is experiencing symptoms of Pompe disease, it is important to seek medical attention and undergo diagnostic testing.

For more information on Pompe disease and the quantitative blood test, contact DNA Labs India today.

Pompe disease is an autosomal recessive lysosomal storage disease due to deficiency of enzyme Alpha Glucosidase leading to primary glycogen storage. Infantile form of the disease is severe with hypotonia, cardiomyopathy & hepatosplenomegaly. Late onset form presents with slowly progressive myopathy with respiratory insufficiency. Enzyme replacement therapy prolongs life in infantile form and prevents deterioration in late onset form of the disease.