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Diagnosed With Phenylketonuria. Not Mentally Retarded And Stunted. Do Suffer From Anxiety And Depression

Posted on Mon, 8 Jul 2013

Question: Hi my sister (48 years old) just informed me she had PKU. I'm not sure why her doctor is telling her this. She is not mentally retarded (she has a very high IQ), not stunted (5'10"), had beautiful flowing hair, no setures no nerilogical problems. She does suffer from anxiety and depression and says this disease has caused this. Is this possible? Can a double mutation of PKU only cause depression and anxiety?

Thanks XXXXXXX

Answered by Dr. Aarti Abraham (1 hour later)

Hi XXXXXXX
Thanks for your query.

Although it is possible that some people with mild phenylketonuria are living relatively normal lives and are not in contact with services, it is likely that many people with untreated phenylketonuria and severe intellectual disabilities live in the community, known to learning disability services, but are not recognised as having untreated phenylketonuria.
It IS possible that she may be exhibiting only psychiatric and psychological manifestations
Go through the following excellent links for reading up the subject in detail -

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Above answer was peer-reviewed by : Dr. Chakravarthy Mazumdar

Follow up: Dr. Aarti Abraham (3 hours later)

Thank you for your quick answer. I know that our family carries the MTHFR gene that can cause mental illness along with clotting issues. How do I find out if I have PKU? I would like to find out how to the the DNA test done. Maybe for both MTHFR and PKU. I have a 27 year old daughter that is very emotional I would like to get tested to maybe see if she may have it. She presently does not have health insurance but I do. If I have it there is a good possiblility she does. However she was tested for PKU when she was born.

Thanks XXXXXXX

Answered by Dr. Aarti Abraham (3 hours later)

Genetic testing is available for the MTHFR gene, and for PKU, and your physician can order one based on the family history.
If your daughter was tested for PKU when she was born, then the disease is ruled out, however she might be a carrier ( one shot mutation ).
Thanks for your appreciation.
Take care.

Above answer was peer-reviewed by : Dr. Chakravarthy Mazumdar

Follow up: Dr. Aarti Abraham (11 hours later)

Thank you. Yes I agree my daughter must not be a double mutation of PKU (if anything). If I'm tested and negative then she would only be a carrier (maybe from her father) or negative all together. At least if I'm tested we would know a little more. I'm very active and healthy but have to admit I do occasionally have weird episodes of phobias and anxieties. It was more frequent when I was younger.

Thank you.
XXXXXXX

Answered by Dr. Aarti Abraham (4 hours later)

I think you should not trouble yourself with guesswork.
Just get yourself tested.
Am sure we sometimes imagine symptoms when we are scared we might have the disease ( am not calling you a hypochondriac at all, just saying its pretty normal and can happen to anybody )
Please have the test so you would not have further undue anxiety.
Was very nice interacting with you.
ALl the best XXXXXXX

Above answer was peer-reviewed by : Dr. Chakravarthy Mazumdar

Follow up: Dr. Aarti Abraham (8 hours later)

Yes I agree.

Thank you,
XXXXXXX

Answered by Dr. Aarti Abraham (1 hour later)

Take care.
All the best.
Feel free to interact with me anytime.

Note: For further guidance on mental health, Click here.

Above answer was peer-reviewed by : Dr. Chakravarthy Mazumdar