### What is Phenylketonuria (PKU)? Phenylketonuria (PKU) is a rare genetic disorder that affects how the body processes an amino acid called phenylalanine (Phe). Phe is found in many protein-rich foods like meat, eggs, fish, and milk, and even in some artificial sweeteners. ### How Does PKU Affect the Body? People with PKU lack the enzyme needed to break down Phe. As a result, Phe builds up in the blood, which can harm the brain, especially in young children. There is no cure for PKU, but a low-protein diet can help manage the condition. ### How is PKU Inherited? PKU is inherited from both parents. To have PKU, a person must inherit two faulty genes, one from each parent. Carriers, who have only one faulty gene, do not show symptoms but can pass the gene to their children. ### Symptoms of PKU The severity of PKU can vary. The most severe form, known as classic PKU, can lead to serious brain damage if untreated. Milder forms may cause fewer problems, and some people may not need treatment at all. ### Diagnosis and Treatment Newborns are usually tested for PKU with a simple blood test. If diagnosed, the main treatment is a low-protein diet. Special formulas and foods are available to help manage Phe levels. Two medications, sapropterin (Kuvan) and pegvaliase (Palynziq), can also help in some cases. ### Living with PKU Managing PKU requires regular blood tests to monitor Phe levels. Support from family, friends, and healthcare providers is crucial. Special dietary plans and support groups can make living with PKU easier. ### Conclusion PKU is a serious but manageable condition. With the right diet and medical care, people with PKU can lead healthy lives.