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The condition called Phenylketonuria, or PKU, affects one in every ten thousand babies born worldwide. PKU is a genetic condition that affects the way a person’s body processes protein; specifically, it makes it very difficult to break down an amino acid called phenylalanine. Left untreated, PKU can lead to intellectual disability and other serious health problems. Fortunately, with early detection and management, most individuals with PKU can lead healthy and successful lives.
What is PKU?
PKU is a genetic disorder that causes a deficiency of an enzyme called phenylalanine hydroxylase. This enzyme is responsible for converting phenylalanine into another amino acid, tyrosine, which is used by the body to build proteins and other important molecules. Without enough phenylalanine hydroxylase, phenylalanine can build up in the body to toxic levels.
PKU is caused by mutations in the PAH gene, which provides instructions for making the phenylalanine hydroxylase enzyme. Most cases of PKU are inherited in an autosomal recessive pattern, which means that a person must inherit two copies of the mutated gene (one from each parent) in order to develop the condition.
How is PKU diagnosed?
Patient with PKU can be diagnosed using something called a heel prick test on a newborn. This test is usually done a few days after birth while the baby is still in the hospital. If the test results come back positive for PKU, confirmatory testing is done to confirm the diagnosis. This testing typically involves measuring blood levels of phenylalanine and tyrosine.
How is PKU treated?
PKU is typically treated with a special diet that restricts phenylalanine intake. This is typically started as soon as a diagnosis is confirmed, and is continued for life. The diet is very strict, and requires avoiding foods that are high in protein, including meat, fish, poultry, eggs, dairy and products made from grain, such as bread, pasta and cereal. There are special low-protein foods that have been designed for those with PKU which can help make the diet easier to maintain. Vitamin and mineral supplements, especially those for calcium, vitamin D, and iron are also commonly recommended.
PKU can also be managed with medication in conjunction with a restricted diet. One such medication is sapropterin, which helps to increase the activity of phenylalanine hydroxylase in some people. Blood testing is frequently required to monitor phenylalanine levels and adjust the diet or medication as needed.
What are the long-term effects of PKU?
Left untreated, PKU can lead to intellectual disability, seizures, behavioral problems, and mental health difficulties. Children with PKU may grow more slowly than their peers, and may have delayed motor skills development, including sitting, crawling, and walking. Adults with PKU may also be at increased risk of developing high blood pressure, osteoporosis, and other health issues. However, with appropriate treatment and management, most individuals with PKU can lead healthy, productive lives.
Conclusion
PKU is a serious but manageable condition that affects many people worldwide. Early detection and treatment are crucial to ensuring the best possible outcomes for individuals with PKU. If you suspect that you or someone you know may have PKU, it is important to speak with your healthcare provider as soon as possible to confirm the diagnosis and begin treatment.
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