Author Topic: PKU (phenylketonuria)  (Read 15835 times)

Offline blessedwife

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PKU (phenylketonuria)
« on: January 23, 2008, 08:56:25 PM »
Does anyone have any experience with a PKU child or any info. about the disorder in general? 

I'm playing detective, trying to figure out what's going on with my DD. Any help is appreciated!

 :) blessedwife

Offline littlemama24

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Re: PKU (phenylketonuria)
« Reply #1 on: January 24, 2008, 12:35:20 AM »
Does anyone have any experience with a PKU child or any info. about the disorder in general? 

I'm playing detective, trying to figure out what's going on with my DD. Any help is appreciated!

 :) blessedwife


Here are a few links.  I do not have any hands on experience.  I remember someone in school doing a presentation on this though and talking about diet management being high on the priority list.  Anyway, hope the links are helpful!

http://www.pkunews.org/

http://www.marchofdimes.com/professionals/14332_1219.asp

http://depts.washington.edu/pku/diet.html

http://www.pkunetwork.org/PKU.html

http://www.drgreene.org/body.cfm?id=21&action=detail&ref=1156

Offline just jane

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Re: PKU (phenylketonuria)
« Reply #2 on: January 24, 2008, 03:45:28 AM »
It was the disease based on the movie "Lorenzo's Oil".  It is also predominately found in males, perhaps that is a good thing, considering you have a daughter.  :-\
Predominately found in males is NOT TRUE!!!!   I have 2 nieces who have this and they know of just as many girls as boys who have it.

Offline just jane

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Re: PKU (phenylketonuria)
« Reply #3 on: January 24, 2008, 03:55:10 AM »
Like I said above I have 2 nieces who have this.  They are ages 13 and 6 now.  They both were diagnosed soon after birth which is a good thing because the longer you let this go on without professional help, the more damage it will do to the child. 

PLEASE, if you really are suspecting this, call your DR immediately.

PKU is the inability for your body to use a certain protein.  Instead of being used by the body, this protein collects in tissue and most specifically will collect in the brain and can cause eventual brain damage.  :(

This is not an issue to wait around and try to do something "natural" for it.  IT is important for babies to have this test taken at birth so it is detected early.   
BLESSEDWIFE-- Has your baby been tested for this?  If so, and you are still suspecting something they will do another test.

I also want you to know that my 2 nieces are the picture of Health!  ;D
And very intelligent!  ;D      They have been on a very strict diet and a special formula to drink since they were born.   They need to get blood tests regularly to keep their count in check.   Their mother spends alot of time keeping track of what they have eaten every day and it is because of her carefulness and the good dr that they are doing so great!   PTL!

I am going to call my sister and may post again later.     justjane

Offline just jane

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Re: PKU (phenylketonuria)
« Reply #4 on: January 24, 2008, 05:07:17 AM »
I just talked to my sister and she told me that in a newborn there are no symptoms of PKU.   That is why the test MUST be given at birth so treatment can begin right away.     Symptoms will appear overtime if the child never had a test or was misdiagnosed.   

My sister knows of a teenage girl whos parents did not take PKU seriously enough.    She is now developementally delayed and brain damaged to some extent.   I do not say this to produce fear but to show you the seriousness of PKU.

Blessedwife-- I don't know what age your child is or what you are dealing with.  Please feel free to PM me.   My sister would be glad to answer your questions.
There is a really good DR here in PA.    I also would recommend that while you start looking into this that you take her off meat and dairy and eggs.   Vegetables and fruits are fine.   

What do my nieces eat??   Well, the most important part of their diet is their SPECIAL protein drink that they drink everyday.   Because all protein is taken out of their diet, this drink gives them the right kind of protein their body needs. 
They eat vegetables (except corn is a little high)  fruit,  baked potatoes, french fries!     I know they eat more than this but I cannot think of it right now.  My sis bakes special bread for them.     

I want to say this again.  My nieces are beautiful, (blondes  ;D) and they were tested for IQ and they both tested well above average children!   Praise the Lord!
This did not happen by itself but because of the dedication of their mother and following the DR orders.   

PKU is still under study and the formula you can get through a program because of this.   The price for the formula would (without that program) would be several hundred dollars per child per month!

Offline blessedwife

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Re: PKU (phenylketonuria)
« Reply #5 on: January 24, 2008, 08:21:16 PM »
Thanks for the replies! ;D

You know, I did see "Lorenzo's Oil" years and years ago.  I didn't remember the problem being PKU.  How interesting!

Anyway, here is the situation.

I have a beautiful 4 1/2 year old blonde haired, blued-eyed daughter who has been diagnosed as having global developmental delay. 

She did not walk until she was almost 19 mos. old and did not really speak until about age 3.  It took me until the age of 4 to potty train her (not sure if this was really her fault or mine, but anyway...) She exhibited signs of autism or ASD.  For example, until about the age of 3, there was no imaginative play at all.  She did not point and would not understand/respond to someone trying to point at something for her to look at.

However, she has always been very loving and affectionate, good eye contact, likes people (but has had a difficult time trying to figure out what to do with them LOL). 

Now, at the age of 4 1/2 her speech has improved, to the point where she will almost always respond appropriately to someone's question (as opposed to the echolalia that she usually exhibited).  She engages in a lot of imaginative play with her siblings.

She has become rather aggressive in te past year or so, to the point where she can't participate in church Sunday-school-type activities.  She's just too disruptive, can't do the activities, gets into trouble.  She also cannot (does not have the ability to) color, can barely use a pair of scissors.  I have not found anything that she can do independently except for looking at picture books while listening to music.  She enjoys playing with clay for very limited amounts of time. 

My husband and I finally decided that maybe she needs to be evaluated by a pediatrician, so a few weeks ago I took her in and he ran a bunch of tests which all came back normal.  He did tell me that he is rather stumped by her, as she does not seem to fit any particular profile.  He thinks we really need to see a ped. neurologist. 

The reason why I am asking about PKU is because I just happened to come across some general info. about the disease and its symptoms which REALLY described my daughter about 2 years ago.
--strange exzema-like rash
--mousy-type odor of mouth and urine
--developmental delay in all areas

Today, she still has the rash, is still considered delayed, but does not have the strange smell anymore.  Her development seems to be advancing VERY slowly, but it's not stagnant. 

I have read that the "typical" PKU child has a smaller than average head size, whereas my daughter's is larger than average.  I know that she got the PKU prick in the hospital a few days after she was born, but I don't think that she received the follow-up screening at her 2-week-old check-up.  (I can't remember)  Anyway, the test did not come out positive.  But I am wondering...
Could it be possible that she could have an undetected case of PKU or maybe something similar to the disease? Maybe some strange, variant form of the condition?

I have had her on a casein and gluten-free diet for the past month or so and I have seen improvements in her communication, but I'm not sure if it's the diet or just coincidence. 

Anyway, this post is much longer than I intended-- sorry! :P

One of the tests that was run was an amino acid screen (urine) for "inborn errors of metabolism and genetic abnormalities".  This was found to be normal.  Does anyone know if this would be sufficent evidence of would another type of test need to be run?

Oh, BTW, I did not mention the idea of PKU to the pediatrician, because the idea did not come to me until a few weeks after my daughter had been seen by him. 

Thanks again for the input!
 :-*blessedwife

Offline healthyinOhio

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Re: PKU (phenylketonuria)
« Reply #6 on: January 25, 2008, 05:35:30 AM »
I removed my previous posts, here, because apparently I have PKU completely confused with a different disorder.  So, justjane, we are both correct in our statements.  PKU is not predominately found in males, but the disorder that I confused it with is.  ::) Crazy miscommunication!  ;)
So, no, you won't find this in Lorenzo's Oil, the movie.  My mistake and I apologize.

Offline just jane

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Re: PKU (phenylketonuria)
« Reply #7 on: January 25, 2008, 06:21:01 AM »
Blessedwife,  I talked to my sis again and here is what she said.......PKU is very easy to check for.  It is a simple blood test.  The same one the babies get when they are born and PKU would be detected at any stage. 

What I would recommend is that you let a message with you pedatrican's nurse requesting that the DR fill out a paper for you to get this PKU test done.   If he has already had a visit with your child then I would think he could send you for this blood test w/o seeing her again.    Then you will know for sure if it is or not.
As far as I know the test is inexpensive.

As far as head size, it doesn't seem to have much to do with it.   The Dr's do measure the girls heads but would have said that it has more to do with genetics.

There are differing degrees of having PKU.   Some need to be EXTREMLY strict with diet and others not quite as much.    That all depends on their levels and the PKU test would show the level too.

My sis also said the test you got done would have showed up Maple Syrup Diseas which is a cousin to PKU.   But, the test would not have included PKU.

So, the simplest thing would be to get a simple blood test done and let us know how you make out.

I wouldn't be surprised if it is negative altho' you never know in life!!!!

Offline blessedwife

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Re: PKU (phenylketonuria)
« Reply #8 on: January 25, 2008, 07:31:51 AM »
Thanks, just jane!

I'm going to call the dr.'s office right now.  We also have a ped. neurology appt. set for next week.
I'll post again when we find something out.

God bless you! ;D

Offline freshisbest

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Re: PKU (phenylketonuria)
« Reply #9 on: January 25, 2008, 08:08:27 AM »
I would like to jump on here blessedwife, to say my son ( now 10) had been diagnosed as Developmentally Delayed...talked late, repeated himself, potty trained late, etc. At age 4 he tested at the 18 month level. I got him into a Special Ed program at the preschool and he was very well behaved and a charmer...just not quite with it. Although you are going to the Dr., and getting tests, please go to the website www.fedupwithfoodadditives.info and read about the bread preservative calcium propionate and other preservatives/colors. Your daughter exhibits many of the classic symptoms of food additive sensitivities . Its difficult at first to do elimination diets but it is so so worth it. My son is doing fine now. The Feingold website may be a help too as they operate on the same principle of no additives, colors, etc. If you already eat really pure food forgive me!! Also if you need to PM me feel free.

Offline blessedwife

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Re: PKU (phenylketonuria)
« Reply #10 on: January 25, 2008, 08:43:42 PM »
hi again--
thanks, freshisbest :)  yes, I had thought about food allergies too.  but DD does not eat anything with preservatives/additives, etc.  she's on about as organic a diet as one can get.

spoke to the pediatrician this afternoon and I was reminded again why I so rarely appeal to them for wisdom.

i told him that i would like a PKU test run on DD.  he told me that all of the tests that he ordered came back completely normal.  i asked him if any of the tests would have checked for PKU and he said "... well, i, i, think so."
i went through her symptoms again and expressed to him that DD seemed to exhibit quite a few symptoms that sound like PKU.  he said, "well, you know, that would have been tested for at birth."
yes, I said, but still, the PKU screening is probably not perfect.
then he said, "well, i don't even know how one would go about testing a 4-year-old for it.  this is something they test for at birth."
 
he then told me that i will need to discuss this with the neurologist, and if he believes it is something worth looking into, the test will be ordered.

*sigh*

I'll just keep praying! ;D

Offline littlemama24

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Re: PKU (phenylketonuria)
« Reply #11 on: January 26, 2008, 01:56:24 AM »
hi again--
thanks, freshisbest :)  yes, I had thought about food allergies too.  but DD does not eat anything with preservatives/additives, etc.  she's on about as organic a diet as one can get.

spoke to the pediatrician this afternoon and I was reminded again why I so rarely appeal to them for wisdom.

i told him that i would like a PKU test run on DD.  he told me that all of the tests that he ordered came back completely normal.  i asked him if any of the tests would have checked for PKU and he said "... well, i, i, think so."
i went through her symptoms again and expressed to him that DD seemed to exhibit quite a few symptoms that sound like PKU.  he said, "well, you know, that would have been tested for at birth."
yes, I said, but still, the PKU screening is probably not perfect.
then he said, "well, i don't even know how one would go about testing a 4-year-old for it.  this is something they test for at birth."
 
he then told me that i will need to discuss this with the neurologist, and if he believes it is something worth looking into, the test will be ordered.

*sigh*

I'll just keep praying! ;D

That is frightening that a doctor wouldn't know it is a simple blood test.  Maybe he isn't completely sure what PKU is...?  Time for a new doc???

Offline just jane

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Re: PKU (phenylketonuria)
« Reply #12 on: January 26, 2008, 04:46:03 AM »
This is probably something the DR has not had any mother ask him before!  ;) ;)

  You are above average in trying to decipher your childs problem.   Just wait a little bit and see what he comes up with and if necessary, insist on getting another blood test for PKU.   From what I understand they just repeat the test that was done at birth, it usually is detected at birth but if you child would have low levels then maybe it could have been missed. 

So sorry you have to go throug this.    It will be so nice once you KNOW what the problem is and can move on working through it.    Sometimes, not knowing is almost more stressful.

Offline blessedwife

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Re: PKU (phenylketonuria)
« Reply #13 on: February 01, 2008, 08:29:32 PM »

I met with the neurologist yesterday.  He agreed to the PKU test with no argument.  He also ordered a whole battery of other tests that seem to focus on chromosomal disorders.  In addition, he REALLY wants my daughter to get an MRI, but because she would need to be sedated for the procedure neither my husband nor myself are going to agree to it.  The impression I got was that the MRI would be more a matter of just satisfying some curiosity as to what is going on with DD's brain and, in our opinion, not worth the risk.
So today DD got 1/2 of the blood tests done, and we will be going in next week for the other 1/2. 
We'll see... :-\

Offline just jane

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Re: PKU (phenylketonuria)
« Reply #14 on: February 05, 2008, 08:51:58 AM »
Sounds like a good choice.....it shouldn't be long now until you know. bestowishes

Offline mom2three

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Re: PKU (phenylketonuria)
« Reply #15 on: February 17, 2008, 11:45:13 AM »
I stumbled upon your post because my husband has PKU.  Also, my son has Asperger syndrome.  When my son was diagnosed two years ago, I also found the information citing a possible misdiagnosis for autism as untreated PKU.  I jumped on it since my husband also has PKU!
My son was tested (twice) as a newborn for PKU and both tests came back negative.  I not only asked the developmental pediatrician who diagnosed my son, but also the experts who treat my husband for PKU.  They all said that we would definitely know if my son had PKU from the test.  Also, undiagnosed PKU would be very severe.  In most cases, the person having untreated PKU would be severely mentally retarded and possibly die very early. 
In fact, my husband is one of the oldest people who have PKU because it was not regularly tested until AFTER my husband was born in 1973!!   I guess most people died since there really aren't any older people with it.  My husband is treating at a great clinic in Houston, but it is a children's clinic because so few adults have it!  Praise God, he was born at the University of Washington hospital who were very advanced in PKU research!!
So, i say all this to comfort you that your daughter is extremely unlikely to have PKU.  The doctor's know this, which is why they kind of blew you off. 
On the other hand, I'm so sorry you are going through this and I hope the best for you.  You can feel free to email me regarding her issues since we have such a similar situation.  My son is now 5 and doing really well, but it is still a struggle.  Bless you "blessedwife" and don't forget that you indeed are blessed even in the midst of this hard time.
Alicia
« Last Edit: February 17, 2008, 11:47:33 AM by mom2three »

Offline blessedwife

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Re: PKU (phenylketonuria)
« Reply #16 on: February 25, 2008, 07:40:03 PM »
Hello ;D
We finally received the results of all the blood tests, and thankfully, everything seems to be normal.
That means we won't be going back to the neurologist ;D ;D ;D
The next step will be taking her in to see a ped. eye specialist to check out this wandering-eye-type thing that she has.
Thank you so much for all of the input and encouragement! :-*

Offline freshisbest

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Re: PKU (phenylketonuria)
« Reply #17 on: February 26, 2008, 03:23:04 AM »
I am praying for you. Keep searching. Seek some opinions outside the medical community ... I found more help that way, anyway. Especially after so many of our tests came back ' negative' or ' inconclusive ' .

Offline panmamma

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Re: PKU (phenylketonuria)
« Reply #18 on: May 24, 2008, 06:54:41 PM »
i know this is really really late, but i wanted to add that the MRI, though she'd have to go under sedation, would allow the dr to rule out many things.
we had a family that adopted a 2yr old boy. original diagnosis was cerebal palsy, but after getting back to the USA, the dr's ran test and said no it wasn't that, just brain damage, not degenerative.
Well, due to a head injury, he had other tests done. They found out that he had a rare disorder where the membrane between the brain hemispheres. He didn't walk til he was almost 2yr old, and developmentally delayed, used to drool alot as well and speech is behind. They have been working with him, but aware of his limits now. He is a rough little guy
All that to say, MRI's and other tests in the neurological realm can be helpful.
Deana in Taiwan
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Offline godsarmyof8

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Re: PKU HELP!!
« Reply #19 on: October 20, 2009, 06:44:31 AM »
I don't know if you have gotten a certain diagnosis on your daughter by now or not.  If so please post an update.  My son who is now 7 yrs old has had similiar symptoms all of his young life.  He was given the diagnosis of verbal and fine motor aprexia.  We have been administering the Weston Price diet to our family since Aug. 2009. We are administering cod liver oil, probiotics, enzymes, and treating for zinc deficientcy since we were not eating right to begin with.  We were gf before that.  We are seeing small and somewhat steady improvements.  He is still speechless. And unable to use his fine motor muscles very well.  Any Help would be greatly appreciated! Love in Christ, Kristine
On a quest for my family's wellbeing; spiritually, mentally, emotionally, physically, and financially. Basically searching for God's Will for His people, finding truths and dispelling one lie at a time.