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Dr. Andrew Rynne

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How do you test for phenylketonuria?

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Dr. Bonnie Berger-Durnbaugh

General & Family Physician

Practicing since :1991

Answered : 2851 Questions

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Posted on Wed, 6 Jun 2018 in Medicines and Side Effects
Question: I'm interested in learning how adults can be tested for phenylketonuria.
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Answered by Dr. Bonnie Berger-Durnbaugh 30 minutes later
Brief Answer:
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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.

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