Ataxia-telangiectasia (A-T) is a rare genetic disorder that can cause progressive physical and neurological disability. One symptom of A-T is elevated levels of alpha-fetoprotein (AFP) in the blood. In this article, we will discuss why AFP levels are elevated in people with ataxia-telangiectasia.
What is Ataxia-Telangiectasia?
Ataxia-telangiectasia (A-T) is a rare genetic disorder that affects the nervous system and immune system. It is caused by a mutation in the ATM gene. People with A-T typically experience progressive physical and neurological disability, including poor coordination, difficulty walking, and difficulty speaking.
What is Alpha-Fetoprotein?
Alpha-fetoprotein (AFP) is a protein produced in the liver and is usually found in the blood. It plays an important role in the development of the fetus. After birth, AFP levels typically decrease.
Why is AFP Elevated in Ataxia-Telangiectasia?
People with A-T typically have elevated levels of AFP in their blood. This is due to a lack of the protein that normally breaks down AFP in the body. Without this protein, AFP levels can build up in the blood and lead to elevated AFP levels.
Elevated levels of AFP can be used as a marker for A-T, as well as to monitor the progression of the disorder and response to treatment. It can also be used to detect A-T in newborns, as AFP levels are typically lower in newborns than in adults.
Conclusion
Ataxia-telangiectasia is a rare genetic disorder that can cause progressive physical and neurological disability. People with A-T typically have elevated levels of alpha-fetoprotein (AFP) in their blood. This is due to a lack of the protein that normally breaks down AFP in the body. Elevated levels of AFP can be used as a marker for A-T, as well as to monitor the progression of the disorder and response to treatment.