
How Do You Test For Phenylketonuria?

Question: I'm interested in learning how adults can be tested for phenylketonuria.
Brief Answer:
Information
Detailed Answer:
Hello and welcome,
The same test that is used as a screening test in newborns can be used in adults. This is simply called a phenylketonuria blood test. Your doctor can order it and you can go to the lab and have your blood drawn.
If the screening test comes back as showing that you lack the enzyme to use phenylalanine, then a follow up confirmatory test should be done, and a discussion with your doctor about what symptoms you are having that would go with this abnormality. A dietician would be the next step as PKU is controlled with diet.
Does this answer your question?
Information
Detailed Answer:
Hello and welcome,
The same test that is used as a screening test in newborns can be used in adults. This is simply called a phenylketonuria blood test. Your doctor can order it and you can go to the lab and have your blood drawn.
If the screening test comes back as showing that you lack the enzyme to use phenylalanine, then a follow up confirmatory test should be done, and a discussion with your doctor about what symptoms you are having that would go with this abnormality. A dietician would be the next step as PKU is controlled with diet.
Does this answer your question?
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Above answer was peer-reviewed by :
Dr. Chakravarthy Mazumdar

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