what is the cause of phenylketonuria Phenylketonuria essex patient pku

Phenylketonuria, also known as PKU, is a rare inherited disorder that affects the way your body processes an amino acid called phenylalanine. This amino acid is found in many protein-rich foods, such as meat, fish, dairy products, and certain vegetables. When someone with PKU eats foods that contain phenylalanine, their body can’t break it down properly, and it can build up to toxic levels in their blood. Symptoms of PKU can vary widely from person to person, but may include intellectual disability, seizures, delayed development, behavioral problems, and skin rashes. In some cases, PKU may be so mild that it’s not diagnosed until later in life. However, if left untreated, PKU can cause irreversible damage to the brain and nervous system. The good news is that PKU can be managed with a strict low-phenylalanine diet. This means avoiding most high-protein foods, and eating special low-protein foods and medical formula that provide all the essential nutrients without the excess phenylalanine. For people with PKU, this can be a challenging and lifelong commitment, as even a small amount of phenylalanine can have serious consequences. If you or someone you know has been diagnosed with PKU, it’s important to work closely with a healthcare team and follow a strict diet and medication regimen. With proper management, people with PKU can lead healthy and fulfilling lives, and achieve their full potential. At the same time, it’s important to raise awareness and support research for rare disorders like PKU. More knowledge and resources are needed to better understand the complex genetic factors involved in PKU, develop more effective treatments, and ultimately find a cure. So let’s spread the word about PKU, and encourage everyone to support the rare disease community. We can all make a difference, no matter how small, in the lives of those affected by PKU and other rare diseases.

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