Glycogen storage disease type 11 (GSD XI), also known as lactate dehydrogenase A deficiency (LDHA deficiency), is a rare genetic disorder that affects the body’s ability to break down glycogen, a stored form of glucose. This condition is caused by mutations in the LDHA gene, which plays a crucial role in the glycolysis pathway, converting glucose into energy. Understanding the symptoms of GSD XI is essential for early diagnosis and management. At DNA Labs UAE, we offer a comprehensive genetic test for GSD XI, designed to identify mutations in the LDHA gene, aiding in the diagnosis and management of this condition.
Symptoms of Glycogen Storage Disease Type 11
The symptoms of GSD XI can vary widely among affected individuals, ranging from mild to severe. They typically manifest in infancy or early childhood, but in some cases, symptoms may not appear until later in life. Key symptoms include:
- Muscle Weakness: Individuals with GSD XI often experience muscle weakness, which can affect their ability to perform physical activities.
- Exercise Intolerance: Affected individuals may have difficulty engaging in physical exercise due to rapid muscle fatigue and pain.
- Myoglobinuria: After strenuous exercise, some individuals may notice their urine turning dark. This is due to myoglobin, a muscle protein, being released into the bloodstream and filtered by the kidneys into the urine, indicating muscle damage.
- Compromised Growth: Children with GSD XI may experience growth delays or failure to thrive, as the body’s energy production is affected.
- Elevated Blood Lactate: Since the LDHA enzyme is involved in converting lactate to pyruvate in the glycolysis pathway, its deficiency leads to an accumulation of lactate in the blood, especially after exercise.
It’s important to note that the severity and combination of symptoms can vary greatly among individuals with GSD XI. Early diagnosis and management are crucial in preventing complications and improving quality of life.
Genetic Test for Glycogen Storage Disease Type 11 at DNA Labs UAE
At DNA Labs UAE, we offer a specialized genetic test for GSD XI, targeting the LDHA gene. This test is designed to detect mutations that cause the condition, providing valuable information for diagnosis, management, and familial planning. The test is recommended for individuals presenting symptoms of GSD XI, as well as for those with a family history of the condition.
The process is straightforward and requires only a simple blood or saliva sample. Our state-of-the-art laboratory utilizes the latest in genetic testing technology to ensure accurate and reliable results. The cost of the test is 4400 AED, a worthwhile investment in your health and well-being.
For more information about the LDHA gene glycogen storage disease type 11 genetic test, or to schedule your test, please visit our website. Our team of experts is dedicated to providing you with the highest level of service and support throughout the testing process.
Conclusion
Glycogen storage disease type 11 is a rare genetic disorder that can significantly impact an individual’s quality of life. Recognizing the symptoms early on is crucial for timely diagnosis and management. At DNA Labs UAE, we are committed to providing accurate and comprehensive genetic testing services, including the LDHA gene glycogen storage disease type 11 genetic test. With our expert team and advanced technology, we strive to empower individuals with the knowledge they need to manage their health effectively.
