can you develop pku later in life Living with pku

If you or someone you know is living with PKU, know that you are not alone. PKU, or Phenylketonuria, is a genetic disorder that affects the way the body processes an amino acid called phenylalanine. This can lead to a build up of phenylalanine in the blood, which can cause a range of symptoms and health problems. But with the right treatment and support, people with PKU can lead healthy, fulfilling lives.

Treatment

The most important part of managing PKU is following a low phenylalanine diet. This means avoiding foods that are high in protein, such as meat, fish, dairy, and eggs, which are all significant sources of phenylalanine. Instead, people with PKU must rely on special medical foods and formulas that are low in protein but still provide the nutrients they need. It’s important to work with a registered dietitian who specializes in PKU to develop a meal plan that is safe and balanced.

Some people with PKU also take a medication called sapropterin, which can help to reduce phenylalanine levels in the blood. This medication is not effective for everyone, however, and it can be expensive.

Pregnancy and PKU

People with PKU who are pregnant or planning to become pregnant need to take extra precautions to ensure the health of their baby. High phenylalanine levels can cause brain damage and other birth defects, but careful management of PKU during pregnancy can minimize these risks. It’s important to work closely with a healthcare provider and a registered dietitian who is experienced with PKU during pregnancy.

Women with PKU who are not planning to become pregnant should still use contraception to avoid unplanned pregnancy. Phenylalanine levels can spike during pregnancy, so it’s important to maintain strict control of PKU even when not trying to conceive.

Support

Living with a chronic condition like PKU can be challenging, and it’s important to have a support system in place. There may be local or online support groups for people with PKU and their families, which can provide a safe and understanding space to connect with others. It’s also important to have a healthcare team that includes a medical provider, dietitian, and other specialists as needed.

Remember, PKU is a manageable condition with the right treatment and support. By working closely with a healthcare team and following a low phenylalanine diet, people with PKU can lead healthy and fulfilling lives.

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