Citrullinemia is a rare genetic disorder that affects the body’s ability to remove ammonia from the bloodstream. This condition is caused by mutations in the ASS1 gene, which plays a crucial role in the urea cycle. The urea cycle is a series of chemical reactions in the liver that convert ammonia, a toxic byproduct of protein metabolism, into urea, which is then excreted from the body through urine. When the ASS1 gene is mutated, it leads to a deficiency of the enzyme argininosuccinate synthetase, disrupting the urea cycle and causing ammonia to accumulate in the bloodstream. This can lead to serious health issues, including brain damage, coma, and if untreated, can be fatal.
Symptoms of ASS1 Gene Citrullinemia
The symptoms of citrullinemia can vary widely among individuals, and they often appear during the newborn period or early infancy. However, in some cases, symptoms may not become apparent until later in childhood or adulthood. Early detection and treatment are crucial for preventing the severe consequences of the disorder. Some of the most common symptoms include:
- Poor feeding or failure to thrive in newborns
- Vomiting and irritability
- Lethargy or excessive sleepiness
- Seizures
- Hypotonia (decreased muscle tone)
- Ataxia (lack of muscle coordination)
- Neurological problems, including developmental delays and learning disabilities
- Hyperammonemia (elevated ammonia levels in the blood)
It’s important to note that the severity of symptoms can vary, and not all individuals with citrullinemia will experience all of these symptoms. In some cases, individuals may appear healthy for periods before experiencing acute episodes of hyperammonemia, which can be triggered by factors such as infections, dietary protein intake, or stress.
ASS1 Gene Citrullinemia Genetic Test
To diagnose citrullinemia, a genetic test is available that can identify mutations in the ASS1 gene. This test is crucial for confirming the diagnosis, understanding the specific mutation, and guiding treatment decisions. The ASS1 Gene Citrullinemia Genetic Test offered by DNA Labs UAE is a comprehensive test that screens for mutations in the ASS1 gene associated with citrullinemia.
The cost of the ASS1 Gene Citrullinemia Genetic Test is 4400 AED. This test is an essential tool for families with a history of citrullinemia or for individuals who are experiencing symptoms consistent with the disorder. By identifying the specific mutation, healthcare providers can offer personalized treatment plans and make recommendations regarding diet and lifestyle to manage the condition effectively.
Conclusion
Citrullinemia is a serious genetic disorder that requires early diagnosis and intervention to prevent severe health complications. The ASS1 Gene Citrullinemia Genetic Test is a valuable resource for individuals and families affected by this condition. With a cost of 4400 AED, the test provides crucial information that can lead to better management and improved outcomes for those with citrullinemia. If you suspect that you or a loved one may have citrullinemia, it’s important to seek medical advice and consider genetic testing as a step towards diagnosis and treatment.
