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How Do You Test For Phenylketonuria?

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Posted on Wed, 6 Jun 2018
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:
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.

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Above answer was peer-reviewed by : Dr. Chakravarthy Mazumdar
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Answered by
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Dr. Bonnie Berger-Durnbaugh

General & Family Physician

Practicing since :1991

Answered : 3134 Questions

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How Do You Test 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?