Glycogen storage disease type 7, also known as Tarui disease, is a rare genetic disorder that affects the body’s ability to metabolize glycogen, a key source of energy during physical activity. This condition is caused by mutations in the PFKM gene, which provides instructions for making a critical enzyme needed for breaking down glycogen into glucose. Without adequate levels of this enzyme, affected individuals can experience a range of symptoms that significantly impact their quality of life. DNA Labs UAE offers a comprehensive genetic test for diagnosing this condition, providing essential information for managing and treating the symptoms effectively.
Symptoms of PFKM Gene Glycogen Storage Disease Type 7
Glycogen storage disease type 7 can manifest in various ways, depending on the severity of the enzyme deficiency. Common symptoms include:
- Muscle Weakness and Cramps: Individuals may experience muscle weakness and cramps, particularly during exercise, as the muscles are unable to obtain sufficient energy from glycogen.
- Exercise Intolerance: Due to the lack of available energy from glycogen breakdown, affected individuals often find it difficult to perform physical activities and may experience rapid fatigue.
- Myoglobinuria: After intense exercise, some people may notice their urine turning dark. This is due to the presence of myoglobin, a protein released when muscle tissue breaks down, which can lead to kidney damage if severe.
- Hemolytic Anemia: The disorder can cause red blood cells to break down prematurely, leading to hemolytic anemia. Symptoms of anemia include fatigue, weakness, and pale skin.
- Compromised Growth: Children with this condition may experience growth delays or reduced stature due to the body’s energy imbalances and potential metabolic complications.
It is important to note that the severity and combination of symptoms can vary widely among individuals with the same condition. Early diagnosis and management are crucial for improving outcomes and quality of life.
PFKM Gene Glycogen Storage Disease Type 7 Genetic Test
DNA Labs UAE provides a specialized genetic test to diagnose glycogen storage disease type 7. This test analyzes the PFKM gene for mutations that cause the condition. A precise diagnosis can help in planning the appropriate management and treatment strategies, including dietary modifications, exercise recommendations, and monitoring for potential complications.
The cost of the genetic test is 4400 AED. While the test provides valuable insights into the genetic basis of the condition, it is also crucial for affected individuals and their families to consider genetic counseling. Counseling can offer support and information about the inheritance patterns, risks to other family members, and implications for future pregnancies.
Why Choose DNA Labs UAE?
DNA Labs UAE is committed to providing accurate and reliable genetic testing services. Our state-of-the-art laboratory is equipped with the latest technology to ensure the highest standards of testing. Our team of experts is dedicated to delivering personalized care and support throughout the testing process. By choosing DNA Labs UAE for your genetic testing needs, you can expect:
- Comprehensive genetic analysis with accurate results.
- Support from a team of experienced genetic counselors and specialists.
- Confidential handling of all personal and medical information.
- Transparent pricing and no hidden costs.
For more information about the PFKM gene glycogen storage disease type 7 genetic test and to schedule your appointment, please visit our website at DNA Labs UAE.
Understanding your genetic makeup can empower you to make informed decisions about your health and well-being. If you or a loved one is experiencing symptoms that suggest glycogen storage disease type 7, consider reaching out to DNA Labs UAE for comprehensive genetic testing and support.
