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PKU, or phenylketonuria, is an inherited disease that affects the way the body processes the amino acid phenylalanine. If left untreated, this condition can lead to a range of health problems, including intellectual disability, seizures, and behavioral problems. The good news is that PKU can be managed with proper treatment and a healthy diet. When it comes to understanding PKU, there are a few key things to keep in mind. First of all, the condition is inherited in an autosomal recessive pattern. This means that a person needs to inherit two copies of the faulty gene that causes PKU (one from each parent) in order to develop the condition. If a person only has one copy of the gene, they are a carrier but do not have PKU themselves. As for the genetics of PKU, the faulty gene is called the PAH gene. This gene provides instructions for making an enzyme that is responsible for breaking down phenylalanine in the body. In individuals with PKU, the PAH gene is mutated, which means that the enzyme is not produced or does not function properly. As a result, phenylalanine builds up in the body and can cause damage to the brain and nervous system. Now, let’s talk about how PKU is diagnosed and treated. In most cases, PKU is detected through newborn screening. This involves taking a small blood sample from the baby’s heel and testing it for a variety of genetic conditions, including PKU. If PKU is detected, the baby will be started on treatment right away. The primary treatment for PKU is a low-phenylalanine diet. This means avoiding foods that are high in phenylalanine (such as meat, dairy, and some grains) and instead consuming special medical formulas and low-protein foods. It is extremely important for individuals with PKU to follow this diet closely in order to prevent the buildup of phenylalanine in the body. In addition to dietary changes, individuals with PKU may also need to take a medication called Kuvan. This medication helps to increase the activity of the enzyme that breaks down phenylalanine, which can make it easier to manage PKU. Overall, PKU is a serious condition but it can be managed with proper treatment and care. If you or a loved one has been diagnosed with PKU, it is important to work closely with a healthcare provider to develop a treatment plan that works for you. With the right approach, individuals with PKU can lead healthy and fulfilling lives.
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