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prompter
Give a summary of Phenylketonuria:
What is it, what are the causes (is it genetic?) and effects, how is it diagnosed, how common is it, and are there any treatments or cures? If there are more notable things about PKU, include those as well.
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f1be017c-007e-43d3-9661-d3281075a341
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Phenylketonuria (PKU) is a rare genetic disorder that affects the body's ability to process an amino acid called phenylalanine. PKU occurs when the body lacks the enzyme phenylalanine hydroxylase (PAH), which is responsible for breaking down phenylalanine into other chemicals that the body can use.

PKU is caused by a mutation in the PAH gene, which is inherited from both parents. If both parents are carriers of the mutated gene, their child has a 25% chance of inheriting two copies of the mutated gene and developing PKU.

If left untreated, PKU can cause intellectual disability, seizures, behavioral problems, and other neurological issues. However, PKU can be managed through a strict low-phenylalanine diet, which includes limiting or avoiding high-protein foods such as meat, dairy, and eggs.

PKU is typically diagnosed through newborn screening, which involves taking a blood sample from a newborn baby's heel within the first few days of life. If PKU is detected, further testing is done to confirm the diagnosis.

PKU is rare, affecting about 1 in every 10,000 to 15,000 newborns in the United States. However, the incidence varies by population, with a higher prevalence among certain ethnic groups.

There is currently no cure for PKU, but the strict low-phenylalanine diet can effectively manage the condition and prevent complications. Additionally, medication and supplements may be used to help manage PKU symptoms.

People with PKU must follow the low-phenylalanine diet for life, and regular monitoring and medical care are necessary to manage the condition effectively. Without treatment, PKU can cause severe and permanent damage to the brain and nervous system.