Phenylalanine is an essential amino acid, which means our bodies do not produce it, and we must obtain it from the foods we eat. The Phenylalanine - Quantitative Plasma test measures the amount of phenylalanine in the blood. This test can help diagnose and monitor conditions such as phenylketonuria (PKU), a rare inherited disorder that causes phenylalanine to build up in the body, leading to intellectual disability and other serious health problems.
Phenylalanine is found in high protein foods, such as meat, fish, eggs, dairy, and some artificial sweeteners. It plays a key role in the body, contributing to the structure and function of proteins and enzymes and the production of other important molecules in the body.
The Phenylalanine - Quantitative Plasma test is usually ordered when a newborn has a positive newborn screening test for PKU or when a person has symptoms suggestive of PKU. The symptoms may include seizures, developmental delays, behavioral problems, and musty body odor.
This test involves a standard blood draw, typically from a vein in your arm. The sample is then sent to a lab where the level of phenylalanine is measured.
This test is crucial in identifying and managing PKU, a condition that, if left untreated, can lead to severe intellectual disability and other complications. Early diagnosis allows for the implementation of a special diet to help control phenylalanine levels in the body, preventing or reducing the symptoms of PKU.
No, fasting is not required for this test. You can eat and drink as usual before the test.
This test is usually ordered by a pediatrician or geneticist if PKU is suspected.
The test measures the level of phenylalanine in the blood. High levels of phenylalanine can be a sign of PKU or other metabolic disorders.
If you or your child has PKU, your doctor will advise you on how often this test should be done. It is important to monitor phenylalanine levels regularly to ensure they are within a safe range.
The normal values can vary, but generally, a phenylalanine level less than 2 milligrams per deciliter (mg/dL) is considered normal. Your doctor will explain what your specific results mean.
There are no specific precautions for this test. However, if you're taking any medications, let your healthcare provider know as some medications may affect the test results.
Diet is the main factor that can affect phenylalanine levels. Consuming too much protein or certain artificial sweeteners can increase phenylalanine levels. In people with PKU, the body can't break down phenylalanine, so it builds up in the blood and body tissues.
Monitoring phenylalanine levels in people with PKU is important for managing the condition and preventing complications. Medications, liver disease, and certain genetic conditions can also affect phenylalanine levels.
High levels of phenylalanine can be harmful. In babies and children with PKU, it can lead to intellectual disability, developmental delays, and other problems if not treated. In adults, high levels of phenylalanine can cause mental health issues, neurological problems, and skin conditions.
Yes, in individuals with PKU, a special diet that is low in phenylalanine can help control phenylalanine levels. The diet typically includes fruits, vegetables, some low-protein bread and pasta, and a PKU formula that provides protein without phenylalanine.
You may feel a slight prick or stinging sensation when the needle is inserted, but it should not be significantly painful.
The risks associated with this test are minimal and may include slight bleeding from the spot where the needle was inserted, fainting, or feeling lightheaded.
No, this test requires a blood sample to be taken by a healthcare professional and analyzed in a laboratory.
If your test results show high levels of phenylalanine, your healthcare provider will likely order additional tests to determine the cause and the most appropriate treatment. If PKU is diagnosed, you may be referred to a dietitian who specializes in managing PKU.
While this test mainly helps diagnose PKU, it can also help diagnose other disorders that affect the body's ability to metabolize phenylalanine. However, additional testing would be necessary to confirm these conditions.
The primary treatment for PKU involves a lifelong diet that is low in phenylalanine. This diet helps to prevent the mental retardation and behavioral problems associated with PKU. Some individuals may also be prescribed medication to help their bodies process phenylalanine.
The turnaround time for the test results is typically 1-3 days. However, the time can vary depending on the lab.
Yes, phenylalanine levels can change over time, especially in people with PKU. Changes in diet, medication, or health status can all affect phenylalanine levels. Regular monitoring is important to keep levels within a safe range.