how is phenylketonuria treated Phenylketonuria patients to receive online care
Phenylketonuria, also known as PKU, is a rare genetic disorder that affects approximately 1 in every 10,000 to 15,000 infants born in the United States. This disorder causes a buildup of phenylalanine in the body, which can lead to intellectual disability, seizures, and other serious health problems if left untreated. One of the primary causes of PKU is a mutation in the gene that produces the enzyme phenylalanine hydroxylase, which is responsible for breaking down phenylalanine in the body. Without this enzyme, phenylalanine levels can quickly become elevated, leading to a variety of health problems. Symptoms of PKU can vary depending on the severity of the condition and how early it is diagnosed. Some common symptoms include delayed development, microcephaly (a smaller-than-normal head), severe skin rashes, a musty odor in the breath, skin, or urine, and digestive problems. In severe cases, PKU can also lead to seizures, intellectual disability, and behavioral problems. The good news is that PKU can be detected through a simple blood test performed within the first few days of life. If PKU is detected early, it is possible to manage the condition through a low-phenylalanine diet and other therapies. This can help prevent the serious health complications associated with PKU and allow affected individuals to lead relatively normal lives. One of the most important components of managing PKU is following a strict low-phenylalanine diet. This typically involves avoiding high-protein foods like meat, dairy, and eggs, as well as certain fruits and vegetables that contain high levels of phenylalanine. Instead, individuals with PKU must rely on specialized PKU formula to meet their nutritional needs. In addition to diet, there are other therapies that can be used to manage PKU. These include medication to help reduce blood phenylalanine levels, nutritional supplements to ensure proper growth and development, and behavioral therapy to address any associated behavioral problems. Overall, PKU is a rare but serious genetic disorder that can lead to intellectual disability, seizures, and other serious health problems if left untreated. However, with early detection and proper management, it is possible for affected individuals to lead relatively normal lives. If you suspect that you or someone you know may have PKU, it is important to talk to a healthcare professional as soon as possible to initiate testing and treatment.
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