Benign Hyperphenylketonuria

Benign Hyperphenylketonuria

Avatar of Mary Kay

Benign Hyperphenylketonuria

July 18, 2010 in Uncategorized

Hello! I am the parent of a daughter born in 1992, who has benign hyperphenylketonuria. Ellen was diagnosed 3 days after birth and has had a phe level of 2.5 to 3.5 for the first 18 years of life. Recently, she had a phe level of 4.8! She has always eaten a regular diet. Now she is taking Kuvan. Within one week, the 4.8 phe level went to 1.8! She takes 8 tablets per day. She has had no side effects. We were surprised at the cost of Kuvan.     Does anyone have any input on the management of benign hyper phe?     Any info about the tolerance of Kuvan?     Does anyone have any input about benign hyper phe and pregancy? Ellen is a long way from that, but any input about hyper phe would be great! Thanks! Mary Kay

6 Reviews of Benign Hyperphenylketonuria

  1. Registered: Sep 12, 2006

    Posts: 0

    Franklin, Wisconsin

    I am not sure how your daughters hyperphe will be controlled during pregnancy, especially since she is able to eat a normal diet at the moment. I assume her clinic will just want to monitor her blood levels more frequently throughout her pregnancies and make dietary changes if necessary.

  2. Registered: Apr 24, 2009

    Posts: 0

    Cornwall, New York

    Hello… my name is Katie and I am 25 with PKU. I have been on Kuvan for over two and a half years now. If you are a responder to Kuvan (only about 50% of PKU patients are), each PKU responder reacts different to Kuvan. For example, some PKUers are allowed to add PHE to their diet, while others cannot add any PHE at all and the Kuvan just helps keep blood levels low. In order to find out what exactly your daughter can tolerate, I would have her keep a journal of exactly what foods she eats each day (and time of day)… Being consistent as possible each day is important too… This way your clinic will be able to advise you whether your daughter is eating too much PHE or too little. What is important, when starting Kuvan, your daughter should keep her diet the same way unless directed otherwise by dietitian. Hope this helps!

  3. Registered: Aug 6, 2009

    Posts: 0

    , Arizona

    Hello from sunny/hot Tucson. I am the mother of a daughter who is now 31 yrs. old. That many yrs. ago the Drs were just beginning to understand that pku could be only small parts of the strand and not the whole srand missing. Kayrene was on a very lo phe diet for the first 2 years and having levels done every 2 weeks. At about 2 years old her levels were so low that they fell off the chart. We did a challange test and added cows milk to her low phe formula everyday and did levels every night at the same time.She was able to go off the formula after the 2 weeks because she was breaking down all the phe, plus the foods she was getting. She had many speicalists around the country following her progress. Her levels have never been above 8. Most of the time they ran 4-5 when she ate anything she wanted. She is married with 3 children and all are healthy smart kids. The oldest one is in the gifted program. The other 2 (I think will also be) gifted as well. She is a very small person at 4 foot 11 inch and normal weight is under 100 lbs.Not a big eater,which I’m sure helps. She gains 30-35 lbs. during pregnaceys. All of the children are full term. There birth weights are between 5 and half and 6 and a half lbs. UMC always used her cord blood for further research for pku. She keeps a close eye on her levels during pregnacys and they have always been 3-4. When she is not expecting,she does her levels one time a year. It is very AWESOME to know that hyper phe women can have healthy children. I was told 30 years ago by many Drs.”that it would not be a good idea for her to have children” Our research has come a long way sence then. So thanks to all that work, care and protect our freedom so we are able to preform the research that is so important for my daughter, Kayrene to have a healthy family. The “high wire act” was all worth it. She is now expecting there 4th.and last baby in Nov. Who (30 years ago) would have ever guessed?? Proud gma, Cheryl

  4. Registered: Jul 18, 2010

    Posts: 0

    Waterloo, Illinois

    Thank you all for your input and support! Ellen is now in the “normal” range at .9 phe level. She was at 4.8 and started Kuvan and in one week her level was 1.8. Now, taking 8 tabs per day she is at .9. She is not experiencing any side effects that she has expressed. She leaves for college in two weeks. I think that during her senior year at high school she discovered Diet Dr. Pepper at Sonic!! So she has learned her lesson with a phe level of 4.8! I guess she is considered a responder! Kuvan is very expensive! NORD is now paying Ellen’s co-pay of $50 per month, so that is great.
    I am encouraged to hear about the 31 year old with hyperphe has done so well through her 3 pregnancies and so happy to hear about your 4th child! What a blessing! I will let Ellen know about all of your comments and thanks again for sharing!!
    Have a great weekend!
    Mary Kay

  5. Registered: Jul 18, 2010

    Posts: 0

    Waterloo, Illinois

    Has anyone noticed weight gain with Kuvan for young women?

  6. Registered: Sep 28, 2016

    Posts: 0

    No Location

    Hi- I am a mother of a seven month old daughter who has benign PKU. She gets constipated and is about 22 lbs. Is this normal?

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