Community Discussion Forum What’s the Phe? questions about Kuvan and self phe test

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  • #8722
    Avatar of Myungjune

    Hi, there.

    I'm a father of newborn PKU baby who is 28 days old.

    My wife and I are very confused and begging for updated information about PKU.
    (We are Koreans and live in Korea, so don't have enough information sources)

    1. I heard that Kuvan is just for BH4-responsive type. My baby is diagnosed as classic PKU(>20ml/dl) and
        non-responsive to BH4 drug. Then, we don't any hope for Kuvan? or Do we need to go to United States?

    2. I searched this site, and found that some people check their phe level every morning. Do we have any tool kit 
         which check phe level at home? If it exists, please let me know the name of product, company name, anyting.

    Please, give me some information which I can't find in Korea.

    Thank you.

    Avatar of Sarah

    From what I understand, classic PKU does not automatically mean that your daughter will not be a bh4 responder. i think some people on this website do have classic PKU & respond to Kuvan. It works in approximately 40% of PKU patients. How did you find her to be non-responsive to bh4? Was it actually tried? If not, it may be an option you want to explore when your daughter gets older.

    I don't know the answer to your second question. I have not heard of an actual toolkit to check levels daily being used but I think one is being developed now.

    Avatar of Breanna

    Sarah is right. Having classical PKU does not automatically mean your daughter will not respond to Kuvan. I have classical PKU, and Kuvan has worked for me. The only way you will know for sure if your daughter is a responder is to try Kuvan and see if it lowers her phe levels. However, I am not sure if Kuvan is available in Korea yet. You will need to speak to your daughters PKU doctor or dietitian about that.

    As far as a home monitoring device it has not been used yet. Many people are able to do blood tests at home and send the blood test into the lab for testing. For this we use the filter lab slips that are used to test for PKU at birth and lancets. However, Biomarin is in the process of creating a home monitoring device. From what I understand this device is suppose to work with the same concept as a glucose meter used for diabetes. The only difference is that this device would test phe levels.

    I hope this helps!

    Avatar of Myungjune

    I appreciate your quick responses.

    I think I need to clear some points. My baby is son not duaghter :-) And my doctor said that my baby doesn't responsive to BH4. He hospitalized at phe level 35mg/dl and had 24 hour test. (also Kuvan usually test only 24hours? Biomarin says 30days trial program. But in Korea, there is only one mecidine BH4 and only one 24hours test) Anyway, even though BH4, phe level maintained over 20 mg/dl.

    I asked my doctor kuvan. But he said that it's just in test phase and not commercialized. So I told that in United States it's already produced and prescribed, but he kept saying we got only BH4. That made me very disappointed.

    Anyway, going to United States is not easy decision. There are two reasons. first,my baby is non-responsive for BH4, so I'm afraid that my baby would not have any effect of kuvan.(because Biomarin says kuvan is BH4 responsive type)

    second, I'm Korean and have no insurance in United States. Would give me some information about the expense of Kuvan in United States or Canada? Especially in case of no insurance at all.

    I'll wait your reply.

    Thank you, again.

    p.s. Biomarin says new drug for non-responsive for Kuvan, PEG-PAL, is developing. I hope this drug to get FDA approval and to be commercialized ASAP.

    one more p.s. Korea is a very small country, and we have only 200 PKU patients and few specialist in this area. So any Korean can find who is a specialist(There are only 2 doctors in Korea). Could you let me know any doctors, hospitals, or medical centers best in United States?  

    Avatar of Sarah

    Biomarin works with people to help cover the cost of Kuvan without insurance, however it is fairly expensive if you don't have it. If you are really considering moving to the U.S. because you believe treatment will be easier, there are many clinics here. The US is large, but I would do some research on clinics near major cities. I live in Chicago and have a really great clinic, but there are many throughout the country.

    Avatar of Katie

    The girls above provided with your great answers.  I just wanted to say congrats on your baby.  I am a 25 year old living with PKU since birth.  Often times, newborn parents only here what can happen if your child does not follow diet.  What really you do need to hear is there are many people with PKU who live and function happily and normal as an adult.  If you should need anything at all, please do not hesitate to ask.  Keep using this website too.  It is a great resource :)


    Avatar of Janice

    my 2 pku children both have classical pku and they are both on kuvan

    Avatar of Patrick5678

    Anyone from the UK with Classical Pku or other forms I would be happy to hear from you about your experiences with getting it?

    Avatar of lynsey

    hi im lynsey and i live in uk i have classic pku and its been a rollercoaster 4 me with the low protine diet, ive been off the diet 4 12 2 13 yrz and i have found it realy hard 2 get back on the diet im 23 yrz old now and im still not on the diet properly but i am going 2 start diet again cuz me n my fiance' wants 2 start a family of our own. Having pku at secondary school it was very hard 4 me seeing other kids eat anything they wanted and i couldn't i thourght it wasn't fair so i started 2 eat what i wanted because i felt very embbarest about the food i had 2 eat  . last yr i started 2 take my madication and stick 2 the diet properly and me n my partner was trying 4 a baby, when i got my blood levels down 2 120  which is very gud we was so happy that it all of a sudden went wrong cus the pharmacy couldn't get my madication in on time 4 me 2 start a new lot and i was heart broken cus my blood levels went frm 120 2 880 so i gave up bear in mind that i put my prescription in 3 weeks b4 i got the gud blood results 

    Avatar of Apostolia

    Hi, I'm a mother of a 6 month PKU daughter, more or less where you stand I don't know if I got it right,  but from what I realized during my daughter's  first evaluation, there is a rare form  (approx.3%) of PKU, where the defect is in the co-enzyme (BH4) and not the enzyme (hydroxylase) that classic PKUers lack. During the test, they give you the enzyme in pills. If you have this type you  will respond (lower the phe after 24 hours.). However, there are other problems with this type. In mild and classic PKU, children do not have the enzyme hydroxylase. When you administer Kuvan it acts as a co-enzyme and helps to increase the activity of the hydroxylase, thus giving a greater tolerance in phe. I do not Know if Ive been helpfull, my English is not that great. However, don't be disappointed, the test you had was not the test for response in Kuvan.

    Avatar of lynsey

    hi  ppl

    how are you all im lynsey 23 iv got new profile now lol,  im just woundrin if some 1 can explain what kuvan is plz cuz i havent been told about it 4 sum reason,  last tme i woz on here i wos findin it realy hard to strt the diet again but now im glad im gettin all the help i need to do so.

    im realy proud of myself 4 goin out there n gettin the help i desprately needed, iv deffo seen a differents in my hair colour frm a mousey brown to a blonde not sure about my eye colour thow.

    if any 1 cud just let me know i b vry grateful


    Avatar of Edward

    To the original poster from Korea. I have classic PKU and I'm currently living in Japan. USA, from my experience can be hit or miss with PKU expense, with some states covering the cost of supplements and in some cases, food, but others covering hardly anything. If you do decide to go there do some research into the states that are likely to help you. The insurance thing is an obstacle, but getting into the U.S can sometimes be trickier! I hear Nebraska has decent coverage for metabolic diseases. If you're in Korea, you might research Japan too. It is also very rare here from what I am finding out and I am also currently on the look out for doctors in the Kanto area who specialize or who can assist in monitoring and also recommend places within Japan to get dietary foods and formula from. I wish you and your family all the best in your search. I have not tried Kuvan myself yet, primarily because I was just about to finish work in the United States and the cost put me off. I may look into it in Japan.. I heard some early testing or developing was done here…I might be wrong, but hey, everyday you learn something new, right?

    All the best

Viewing 12 posts - 1 through 12 (of 12 total)
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