phenylketonuria is what type of genetic disorder Class 12 biology chapter 5
Phenylketonuria (PKU) is a genetic disorder that affects approximately 1 in every 10,000 to 15,000 people in the United States. It is caused by a deficiency of the enzyme phenylalanine hydroxylase (PAH), which is needed to break down the amino acid phenylalanine. As a result, high levels of phenylalanine build up in the body, leading to a range of symptoms and health complications. Symptoms of PKU can vary widely, but often include intellectual disability, seizures, behavioral problems, skin rashes, and a characteristic musty or mousy odor. The severity of these symptoms depends on the level of phenylalanine in the blood, which is why early diagnosis and treatment are crucial. When caught early and properly managed with a low-phenylalanine diet, many individuals with PKU can live relatively normal lives. While PKU is a rare disorder, it is important to raise awareness about it and ensure that affected individuals receive the appropriate care and support. This may include regular monitoring of blood phenylalanine levels, dietary counseling and support, and in some cases, medication or supplementation to help replace nutrients that may be lacking in the diet. If you or someone you know has been diagnosed with PKU, it is important to work closely with a healthcare provider who specializes in the disorder. With the right care and support, individuals with PKU can lead happy, healthy lives and achieve their goals and aspirations. In summary, PKU is a rare but serious disorder that affects the body’s ability to metabolize phenylalanine, leading to a range of symptoms and complications. Early diagnosis and proper management are key to ensuring the best possible outcomes for affected individuals. By raising awareness and supporting individuals with PKU, we can help to ensure that everyone has the opportunity to live their best life.
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