PKU and bm

[FayeC]

A dear friend of mine went through a great scare with her daughter
(who will be 3 yo in Feb).
She was still nursing her a couple of times a day and for the last few
months the little one was lethargic and not being herself...she had
taken the little girl to the family doctor several times and the
doctor only said it was a virus and that she was getting over it.
About a month ago the little girl started to lose her language skills
and that is when they took her to the emergency room and they did
blood tests there that picked up high levels of amonia in her blood.
It seems that she had always had PKU and it hadn't been detected by
the heel test.
The little one was then transfered to the children's hospital where
my friend was told to quit nursing ASAP.
She told me that since PKU was a problem digesting/breaking down
protein and bm was very rich in protein she couldn't nurse anymore. Is
that the appropriate procedure for PKU?
Has anybody heard of a PKU taking so long to be detected? And what
would be the consequences in case it hadn't been picked up when it
did? What will be the routine management of PKU from now on?
I am really concerned for my friend's baby girl. I do know that she
seems to be getting back to her normal self.

Thanks,

FayeC

[Anne Rogers]

> The little one was then transfered to the children's hospital where
> my friend was told to quit nursing ASAP.
> She told me that since PKU was a problem digesting/breaking down
> protein and bm was very rich in protein she couldn't nurse anymore. Is
> that the appropriate procedure for PKU?
> Has anybody heard of a PKU taking so long to be detected? And what
> would be the consequences in case it hadn't been picked up when it
> did? What will be the routine management of PKU from now on?
> I am really concerned for my friend's baby girl. I do know that she
> seems to be getting back to her normal self.

It's a real shame that it was missed at the heel prick, PKU is one of those
things that if not treated can lead to mental retardation, I really hope it
has been picked up soon enough for your friend's little girl that the impact
will be minimal. Yes it is the correct thing that she should stop
breastfeeding, even in a newborn if PKU is diagnosed then breastfeeding has
to stop, it is basically slowly poisioning the child. As far as I know the
only treatment is to only eat acceptable stuff, which is of course very very
limited and likely to be very expensive, so it should be covered as a
medical expense, I know in the UK you can get suitable foods on prescription
(and presciptions are free for under 16s). I'm very sorry for your friend's
daughter, PKU whilst it shouldn't be disabling is very very restricting,
it's going to be a hard grind, appearing totally normal, but not being able
to eat hardly anything.

Anne

[Jo]

Anne Rogers wrote:
>>The little one was then transfered to the children's hospital where
>>my friend was told to quit nursing ASAP.
>>She told me that since PKU was a problem digesting/breaking down
>>protein and bm was very rich in protein she couldn't nurse anymore. Is
>>that the appropriate procedure for PKU?
>>Has anybody heard of a PKU taking so long to be detected? And what
>>would be the consequences in case it hadn't been picked up when it
>>did? What will be the routine management of PKU from now on?
>>I am really concerned for my friend's baby girl. I do know that she
>>seems to be getting back to her normal self.
>
>
> It's a real shame that it was missed at the heel prick, PKU is one of those
> things that if not treated can lead to mental retardation, I really hope it
> has been picked up soon enough for your friend's little girl that the impact
> will be minimal. Yes it is the correct thing that she should stop
> breastfeeding, even in a newborn if PKU is diagnosed then breastfeeding has
> to stop, it is basically slowly poisioning the child. As far as I know the
> only treatment is to only eat acceptable stuff, which is of course very very
> limited and likely to be very expensive, so it should be covered as a
> medical expense, I know in the UK you can get suitable foods on prescription
> (and presciptions are free for under 16s). I'm very sorry for your friend's
> daughter, PKU whilst it shouldn't be disabling is very very restricting,
> it's going to be a hard grind, appearing totally normal, but not being able
> to eat hardly anything.
>
> Anne
>
>

The only protein this child can't digest is phenylalanine. Isn't there
an appropriate enzyme that can be added to her diet to digest it? I'm
surprised that just quitting breastfeeding is the only answer...

Jo (who can't be bothered looking it up tonight...)

[Sidheag McCormack]

Jo writes:

> The only protein this child can't digest is phenylalanine. Isn't there
> an appropriate enzyme that can be added to her diet to digest it? I'm
> surprised that just quitting breastfeeding is the only answer...

Phenylalanine isn't *a* protein, it's an amino acid that occurs in many
proteins, including those in breastmilk :-( However, according to

http://www.drgreene.com/21_691.html

the best solution is partial breastfeeding, since babies with PKU can have,
and indeed need, some phenylalanine, just not too much.

Sidheag
DS Colin Oct 27 2003

[Anne Rogers]

> The only protein this child can't digest is phenylalanine. Isn't there an
> appropriate enzyme that can be added to her diet to digest it? I'm
> surprised that just quitting breastfeeding is the only answer...

well, if there was then that would be the standard treatment, but it doesn't
seem to exist, diet is the only treatment, I didn't know that it was
possible to partially breastfeed a baby with PKU, thanks for that info
Sidheag, but as the diet has to be so restricted, I'd suspect that for a
toddler to get the best possible diet whilst minimising the phenylalanine
that breastmilk is a less valuable source or nutrition than it otherwise
might be, particularly as it would be very difficult to work out how much of
the stuff is going in and therefore how much can be/needs to be in the rest
of the diet.

Anne

[Anne Rogers]

this is a fairly helpful snippet from http://www.medhelp.org/lib/pku.htm,
though the rest of the page is fairly complicated. I include the later part
as it is possible this is what has happened to your friends daughter, that
is is varient and that is why it hasn't been picked up before. Says nothing
about breastfeeding, but at least it is clear what the goal is.

The goal of PKU treatment is to maintain the blood level of
phenylalanine between 2 and 10 mg/dl. Some phenylalanine is
needed for normal growth. This requires a diet that has
some phenylalanine but in much lower amounts than normal.
High protein foods, such as: meat, fish, poultry, eggs,
cheese, milk, dried beans, and peas are avoided. Instead,
measured amounts of cereals, starches, fruits, and
vegetables, along with a milk substitute are usually
recommended. Phenylalanine free formulas are available for
all age groups. In some clinics, a phenylalanine
'challenge' may be suggested to evaluate whether or not the
child continues to require a low phenylalanine diet. This
test identifies those few persons with a transient or
'variant' form of the disorder. However, most authorities
currently recommend lifelong dietary restriction of
phenylalanine for individuals with classic PKU, in order to
promote maximal development and cognitive abilities.

[Anne Rogers]

I also found this great link

http://www.lalecheleague.org/NB/NBSepOct98p153.html

it's about making sure a baby got all the phenylalanine he needed from
breastmilk alone but not too much either, making up the difference with a
phenylalanine free formula.

Anne

[Donna Metler]

I had a friend on the college debate team who had PKU. Essentially, she was
on a complete vegan diet with no soy protein, with the addition of a
special formula to provide the things she couldn't get through other foods.
It is quite frustrating-one of the things I remember was having to make
extra stops so she could keep her formula on ice, because it would go off
quite quickly.

Obviously, she had no mental delays whatsoever, but according to her, if she
cheated on her diet even a slight bit, she could feel a difference.

--
Donna DeVore Metler
Orff Music Specialist/Kindermusik
Mother to Angel Brian Anthony 1/1/2002, 22 weeks, severe PE/HELLP
And Allison Joy, 11/25/04 (35 weeks, PIH, Pre-term labor)

[FayeC]

Thank you all for your explanations and resources. I will forward them
to my friend and hopefully it was controlled early enough not to have
caused any permanent damage.

Thank you all again,

FayeC