Ethylmalonic encephalopathy is a rare, inherited metabolic disorder characterized by a wide range of symptoms that can affect numerous systems within the body. It is caused by mutations in the ETHE1 gene, which plays a crucial role in the body’s metabolic processes. Understanding the symptoms of this disorder is vital for early diagnosis and treatment. DNA Labs UAE offers a comprehensive genetic test for Ethylmalonic encephalopathy, specifically targeting the ETHE1 gene mutation. This test is a crucial tool in diagnosing this rare condition, providing essential information for managing the disease effectively.
Symptoms of ETHE1 Gene Ethylmalonic Encephalopathy
Individuals with Ethylmalonic encephalopathy may exhibit a wide range of symptoms, often varying in severity. Some of the most common symptoms include:
- Developmental delay and regression: Affected individuals may experience delays in reaching developmental milestones or may lose previously acquired skills.
- Neurological issues: This can include seizures, hypotonia (reduced muscle tone), and ataxia (lack of muscle control during voluntary movements).
- Petechiae: Small, red or purple spots on the skin caused by minor bleeding from broken capillary blood vessels.
- Chronic diarrhea: Persistent diarrhea that can lead to further complications such as dehydration and nutrient deficiencies.
- Orthostatic acrocyanosis: A condition characterized by the bluish discoloration of the skin, particularly in the hands and feet, which can worsen with standing.
- Elevated levels of lactic acid and ethylmalonic acid in the body: These are indicative of the metabolic disturbances caused by the disorder.
It is important to note that the severity and combination of symptoms can vary widely among affected individuals. Early detection and intervention are crucial in managing the condition and improving the quality of life for those affected.
ETHE1 Gene Ethylmalonic Encephalopathy Genetic Test at DNA Labs UAE
DNA Labs UAE offers a specialized genetic test designed to detect mutations in the ETHE1 gene, which are responsible for Ethylmalonic encephalopathy. This test is a critical step in diagnosing the condition, allowing for targeted treatment and management strategies to be implemented. The test involves a simple sample collection process, after which the sample is analyzed using state-of-the-art genetic testing technologies to identify any mutations in the ETHE1 gene.
Test Cost
The cost of the ETHE1 gene Ethylmalonic encephalopathy genetic test at DNA Labs UAE is 4400 AED. While the cost may seem significant, it is important to consider the benefits of early and accurate diagnosis. Identifying the condition early can lead to more effective management, potentially reducing the severity of symptoms and improving the overall quality of life for the affected individual.
Conclusion
Ethylmalonic encephalopathy is a challenging condition, but with advances in genetic testing, such as the ETHE1 gene test offered by DNA Labs UAE, there is hope for affected individuals and their families. Early diagnosis and intervention are key to managing the symptoms and complications associated with the disorder. For more information on the ETHE1 gene Ethylmalonic encephalopathy genetic test, including how to arrange for testing, please visit https://dnalabsuae.com/tests/ethe1-gene-ethylmalonic-encephalopathy-genetic-test/.
