Tyrosinemia type 2, also known as Richner-Hanhart syndrome, is a rare genetic disorder that results from a deficiency of the enzyme tyrosine aminotransferase. This enzyme is crucial for the metabolism of tyrosine, an amino acid that is a building block of most proteins. When this enzyme is deficient, tyrosine and its by-products accumulate in the body, leading to a variety of symptoms. Understanding these symptoms is crucial for early diagnosis and treatment, which can significantly improve the quality of life for those affected. DNA Labs UAE offers a genetic test specifically designed to detect mutations in the TAT gene, which is responsible for tyrosinemia type 2.
Symptoms of Tyrosinemia Type 2
The symptoms of tyrosinemia type 2 can vary widely among individuals but generally include issues related to the skin, eyes, and, occasionally, intellectual development. Early diagnosis and treatment are vital to managing the symptoms effectively. Here are some of the most common symptoms associated with tyrosinemia type 2:
- Painful lesions on the palms and soles: One of the hallmark symptoms of tyrosinemia type 2 is the development of painful lesions on the palms of the hands and the soles of the feet. These lesions can be debilitating and significantly affect the quality of life.
- Eye abnormalities: Individuals with tyrosinemia type 2 often experience eye problems, including corneal ulcers and inflammation, which can lead to discomfort and vision issues.
- Intellectual disability: While not as common, some individuals with tyrosinemia type 2 may experience developmental delays or intellectual disability.
- Behavioral problems: Behavioral issues, including self-mutilating behaviors, have been observed in some cases of tyrosinemia type 2.
Genetic Testing for Tyrosinemia Type 2
Genetic testing for tyrosinemia type 2 involves analyzing the TAT gene for mutations that cause the disorder. DNA Labs UAE offers a comprehensive genetic test for this purpose. The test is a crucial step in diagnosing the condition, especially in individuals who exhibit the symptoms described above. Early detection through genetic testing can lead to prompt treatment, which may include dietary restrictions and medication to manage the symptoms and prevent further complications.
Test Cost
The cost of the TAT gene tyrosinemia type 2 genetic test at DNA Labs UAE is 4400 AED. While the cost may seem significant, the value of an early and accurate diagnosis cannot be overstated. It enables targeted treatment that can drastically improve the quality of life and outcomes for those affected by this rare disorder.
Conclusion
Tyrosinemia type 2 is a rare but treatable genetic disorder. Recognizing the symptoms early and undergoing genetic testing can lead to effective management of the condition. DNA Labs UAE is at the forefront of providing comprehensive genetic testing services, including the TAT gene tyrosinemia type 2 genetic test. For more information and to schedule a test, please visit https://dnalabsuae.com/tests/tat-gene-tyrosinemia-type-2-genetic-test/.
