What is Shawn's diagnosis?  Is he "normal" or does he have an organic
acidemia disease?  My son has Methylmalonic Acidemia and he is wayyyyyy under
the chart at 11 years. Write back.

Teresa:

Best bet would be to get an amino acid fractionation test run.  This would
rule out alot of metabolic disorders such as PKU (which is represented by a
musty or "mousey" odor), and other metabolic problems.

Lin

TESSABUG@... wrote:
>
> This is going to sound weird but my daughter occasionally gets what I call a
> "saltine cracker" odor..............does anyone else have a child that gets
> this odd odor? She only has a clinical diagnosis of Angelman syndrome,
> nothing metabolic. But has in the past had a few weird levels of different
> acids. One of her peds recently reminded me of the acid levels and I
> mentioned the odor. Now she wants me to try to get a urine sample when she
> has this odor. She is potty trained so it should be fairly easy.
> I just have to wait for the mystery odor to return.
>
> Teresa
>
> ------------------------------------------------------------------------
> Failed tests, classes skipped, forgotten locker combinations.
> Remember the good 'ol days
> http://click.egroups.com/1/4053/5/_/581489/_/960175105/
> ------------------------------------------------------------------------
>
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Teresa,
	 The main body odor that I can think of that would smell like
a cracker would be yeast.  When Cadence first became ill, she had a case
of thrush too.  I thought she smelled like bread.  And that would make
sense if she has some spikes in acid, yeast grows best in acid.
Hope this helps some.
Leslie Pierce
Mom to Cadence, 4, Propionic Acidemia and DJ 13 months

Teresa-
     My daughter has homocystinuria and she definitely has an odd odor to her
urine.  It is hard to describe but very distinctive.  Although she is being
treated and her levels are better, we still note the odor, especially in the
morning, when presumably her urine is more concentrated.  There are other
metabolic and endocrine disorders that have characteristic urine odors - good
idea to check it out.     TWaters

TESSABUG@... wrote:

> This is going to sound weird but my daughter occasionally gets what I call a
> "saltine cracker" odor..............does anyone else have a child that gets
> this odd odor? She only has a clinical diagnosis of Angelman syndrome,
> nothing metabolic. But has in the past had a few weird levels of different
> acids. One of her peds recently reminded me of the acid levels and I
> mentioned the odor. Now she wants me to try to get a urine sample when she
> has this odor. She is potty trained so it should be fairly easy.
> I just have to wait for the mystery odor to return.
>
> Teresa
>
> ------------------------------------------------------------------------
> Failed tests, classes skipped, forgotten locker combinations.
> Remember the good 'ol days
> http://click.egroups.com/1/4053/5/_/581489/_/960175105/
> ------------------------------------------------------------------------
>
> IEM FAMILY FORUM
> -----
> Get Money for Reading Your E-mail
> http://clickpick.com/progcgi/adsA.cgi?banner=moneymail
>  -----------------------
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>  http://bestbuystravel.com
> --------------------------
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>   http://clickpick.com/
> -------------------------
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>  http://clickpick.com/hw2/myweather.cgi
> ----------------------------------------
>          Stop Smoking
>    http://just4u.com/forums/cgi/show.cgi?26/26.html

This is going to sound weird but my daughter occasionally gets what I call a
"saltine cracker" odor..............does anyone else have a child that gets
this odd odor? She only has a clinical diagnosis of Angelman syndrome,
nothing metabolic. But has in the past had a few weird levels of different
acids. One of her peds recently reminded me of the acid levels and I
mentioned the odor. Now she wants me to try to get a urine sample when she
has this odor. She is potty trained so it should be fairly easy.
I just have to wait for the mystery odor to return.

Teresa

Kathy wrote:
>
> My oldest son Shawn is 10. He has stopped growing. He has been to the
> endocrinologist  and now we are seeing the GI doctor again. They run tests,
> that come out normal and then nothing happens. I am getting disgusted with
> them.
>
> Shawn does eat a lot. Has nothing to do with his intake unless of course he
> is just not absorbing it. I am getting tired of being asked how much he
> eats.
>
> He had growth hormone studies and bone age, protein, calcium, feretin, zinc,
> IGA. That is all I can think of for now.
>
> Another thing is he has this huge bloated stomach. For awhile I was told it
> was from reflux and his "habit" of swallowing air. He looks at times like a
> starving child.
>
> Any ideas?
>
> Kathy in Maine
>
> ------------------------------------------------------------------------
> Old school buds here:
> http://click.egroups.com/1/4057/5/_/581489/_/959452871/
> ------------------------------------------------------------------------
>
> IEM FAMILY FORUM
> -----
> Get Money for Reading Your E-mail
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> ----------------------------------------
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Kathy,
	 It seems to me during my nursing training that one of our Peds
books had a picture of a child looking just like what you describe. I
believe the name of the disease the child had was called Kowashikor, or
something like that (I don't have my book handy just this minute) and
there is also another related disease, but I can't remember the name of
it.   Anyway, I do remember it's some sort of dietary deficiency
disease, mainly found in indigenous peoples in Africa (with drought and
overpopulation, there isn't enough nutritious food to go 'round) but if
this is something like what your son has, then maybe his case could
stem from an absorbtion problem for that particular food.  I wish I
could be more specific, but we are in the process of moving and all my
books are packed up in a rental unit.  I hope I've helped some, it was
just the first I thought of when you described him.
Good luck,
Leslie Pierce

My oldest son Shawn is 10. He has stopped growing. He has been to the
endocrinologist  and now we are seeing the GI doctor again. They run tests,
that come out normal and then nothing happens. I am getting disgusted with
them.

Shawn does eat a lot. Has nothing to do with his intake unless of course he
is just not absorbing it. I am getting tired of being asked how much he
eats.

He had growth hormone studies and bone age, protein, calcium, feretin, zinc,
IGA. That is all I can think of for now.

Another thing is he has this huge bloated stomach. For awhile I was told it
was from reflux and his "habit" of swallowing air. He looks at times like a
starving child.

Any ideas?

Kathy in Maine

My son had the same problem with MMA and diper rash.  Change the baby more
often.  It's own urine/feces has higher acid/toxins in it.  Soak baby in
Domboro(not sure of spelling, ask pharmacist.)  Put it in tub.

Lastly and most important.  Diet related?  Possibly diet too lacking in
leucine, isoleucine etc.  Have levels checked and adjust.

Hope this helps!

No MMA experience but I did have one of my 3 children who experienced bad diaper
rash and here are some suggestions-1) wash clothes and diapers with a really
mild
detergent and double rinse.  One of my kids broke out in disposable diapers.  2)
change diapers frequently - especially bowel movements.  3)  Let them go bare as
much as possible so the air can get at the area   4)  feed them yogurt - the
live
bacteria may help replace the normal skin flora (same advice for post GI flu or
yeast infections - vaginal or oral thrush)  5)  push water - if the urine and
bowel movements are less concentrated that may not eat at that skin so quick  -
we give our kids way too much juice in this country - apple juice especially set
my son off     6)  the maalox advice was great - we used to coat the bottoms of
our nursing home patients with that so they didn't break down when they got wet-
let it dry - try a hair dryer on cool setting.    Hope some of this helps- good
luck!
     TWaters

Gator6709@... wrote:

> From: Gator6709@...
>
> Does anyone have experience with bad diaper rashes with MMA?
> My 22 month old has had a diaper rash for the last three months.  She has
> been treated by her pediatrician with nystatin topically, then orally, then
> switched to diflucan for one month with oxi-stat.  Her rash was open, red
> with blisters, swollen and bleeding.  It was so bad she couldn't walk.  A
> dermatologist then put her on oral antibiotics and steroid cream.  After two
> weeks on the steroids her rash was gone and we stopped the steroids, two days
> later the rash returned.  She is now back on the steroids, they did a punch
> biopsy that didn't show much (dermatitis), so now her rash is coming back
> even on the steroids.  Her doctors are at a lost, they don't know what to do
> Does anyone have experience with this or any suggestions?
> Darlene
> Gator6709@...
>
> > IEM FAMILY FORUM
> -----
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I rarely post and do not know if this info will be of help but my ped told me
to use AQUA-PHOR mixed with malox (yes the liquid antacid) for my daughter
(she does not have MMA but this mixture sure helped her little butt)

Teresa

Does anyone have experience with bad diaper rashes with MMA?
My 22 month old has had a diaper rash for the last three months.  She has
been treated by her pediatrician with nystatin topically, then orally, then
switched to diflucan for one month with oxi-stat.  Her rash was open, red
with blisters, swollen and bleeding.  It was so bad she couldn't walk.  A
dermatologist then put her on oral antibiotics and steroid cream.  After two
weeks on the steroids her rash was gone and we stopped the steroids, two days
later the rash returned.  She is now back on the steroids, they did a punch
biopsy that didn't show much (dermatitis), so now her rash is coming back
even on the steroids.  Her doctors are at a lost, they don't know what to do
Does anyone have experience with this or any suggestions?
Darlene
Gator6709@...

We will have a new e-mail address this weekend.  We will e-mail or call you with
the new address.  Look forward to being able to talk to you again.  Hope all is
well.  Love, Spring

OUR PRAYS ARE WITH YOU AT THIS VERY DIFFICULT TIME.

                                         lOVE. KIM AND DALE

Dear Glenn and Pam,
We are *so* very sorry about Micah.  You will probably be amazed to learn
that Nathan's death was also on November 20th (1995).  You know they were
only a month apart in age...Nathan's birthday was October 6, 1981.  Kraig
and I were so taken with Micah during that first Menkes conference we
attended (was it 1985?).  He was much like Nathan in personality...joyous
and giggly and excited about being alive....and all the other kids there
were so unaware of their surroundings.  We were blessed above anything any
medical people led us to expect, weren't we?  Those two boys were such a
joy, not only to us, but to our families and friends, too.  God truly gave
us a great gift in them, and for that we will always be so grateful, and
looking toward the day when we will be with them again.
We're going to try to call you...don't know if we can find your phone
number...but we DO understand your pain, and we will keep you in our
prayers, especially tomorrow as you celebrate his precious life. Eighteen
years is such a long time to live with this wretched disease, but not
nearly long enough, is it?
Love,
Jennifer and Kraig

At 11:07 PM 11/24/99 -0600, you wrote:
>From: "Glenn Rees" <grees@...>
>Jennifer and family,
>         we are the parents of Micah Rees although we have some very sad
> news to
>pass on.  just this last Saturday, Nov 20th Micah passed away.

"Chosen" Moms are Truly Blessed
By Erma Bombeck

Most women become mothers by accident, some by choice.  A few by social
pressures and a couple by habit.
	 This year, nearly 100,000 women will become the mothers of
handicapped children.  Did you ever wonder how mothers of handicapped
children are chosen?
	 Somehow I visualize God hovering over Earth selecting his
instruments for propagation with great care and deliberation.  As he
observes, he instructs his angels to make notes in a giant ledger.
	 "Armstrong, Beth; son; patron saint, Matthew.  Forrest,
Marjorie; daughter; patron saint Cecelia.  Rudledge, Carrie; twins;
patron saint... Give her Gerard, he's used to profanity."
	 Finally, he passes a name to an angel and smiles.  "Give her a
handicapped child."
	 The angel is curious.  "Why this one, God?  She's so happy."
	 "Exactly." smiles God.  "Could I give a handicapped child a
mother who does not know laughter?  That would be cruel."
	 "But has she patience?" asks the angel.
	 "I don't want her to have too much patience or she will drown
in a sea of self-pity and despair.  ONce the shock and resentment wears
off, she'll handle it."
	 "I watched her today.  she has that feeling of self and
independence that is so rare, and so necessary in a mother.  You see,
the child I'm going to give her has his own world.  She has to make him
live in her world and that's not going to be easy."
	 "But, Lord, I don't think she even believes in you."
	 God smiles. "No matter, I can fix that.  This one is perfect.
She has just enough selfishness."
	 The angel gasps, "Selfishness?  Is that a virtue?"
	 God nods.  "If she can't separate herself from the child
occasionally, she'll never survive.  Yes, ther is a woman whom I will
bless with a child less than perfect.  She doesn't realize it yet, but
she is to be envied.  She will never take for granted a 'spoken word.'
She will never consider a 'step' ordinary.  When her child says 'Momma'
for the first time, she will be present at a miracle and know it!  When
she describes a tree or a sunset to her blind child, she will see it as
few people ever see my creations."
	 "I will permit her to see clearly the htings I see---ignorance,
cruelty, prefudice---and allow her to rise above them.  She will never
be alone.  I will be at her side every minute of every day of her life
because she is doing my work as surely as she is here by my side."
	 "And what about her patron saint?"  asks the angel, his pen
poised in mid-air.
	 God smiles.  "A mirror will suffice."

My deepest sympathy to you and your family.

Pam and Glenn,
You do not know me. I am a person on the list because I feel my family has a
mitochondrial disorder (no official diagnosis yet).

Please accept my condolances on the passing of your son. I hope it is
alright for me to share several experiences with you that I hope may lighten
your hearts a tiny bit.

When my youngest son was 3 he had a mild infection and I was determined not
to run him to the doctor that time as per my husband's feelings that I
always ran the kids in too much. At 2am one morning while sleeping on the
floor by the couch he was sleeping on (to monitor him) I awoke abruptly with
the single strong thought in my head to get him to the ER NOW! I jumped up
so fast that it woke him and he also jumped up and wandered to the bedroom
next to his father and threw up. Dad commented that he must feel better now
meaning "so you don't need to take him anywhere for help". My mind had the
singular thought and I was ready. I had never crossed my husband like that
before but it was like my mind and body weren't my own and I grabbed Shane
up and raced to the ER.
They x-rayed and showed me the tiny hole left in his throat to breath as his
eppiglotis was swollen almost totally shut (from meningitis it turned out
which had landed on that instead of his spinal cord or brain for some
reason). He was put in an ambulance and raced to the major hospital while I
followed in the car (in shock not able to realize exactly what was happening
yet).
He died at the hospital just as a Dr. who was an expert in emergency trachs
was walking down the hallway. He had woken up in the wee hrs of the morning
and felt the urge to go in and check on one of his patients (who was fine).
He ran in and did one on Shane and they worked for 9 minutes to get his
heart going again.
I was told if he lived he would be severely brain damaged.
Two weeks later I was able to bring him home. One night as he and I lay
together in the dark bedroom he asked me if I liked the dark and I replied
yes, it was calm. He told me the hospital room got dark and he went up a
sunbeam and 2 men came running across the street and told him to go home so
he flew down out of the clouds and then his throat hurt.
For months he would go to the window and gaze at the clouds and tell me God
lived there. He is grown with 2 small sons of his own now and doesn't
remember any of this. I will never forget knowing that God is in control and
that heaven is really there and that we go on forever.
My 2nd experience is when my mother was dieing. She went back and forth
between heaven and earth for the whole day previous and shared with us (her
7 remaining children) a beautiful world beyond (or around us as the case may
be). She didn't want to go on and leave my father who had ALzhiemer's so it
was hard for her to agree to leave here. It was like the other side had to
help her be comfortable with the decision. She saw my oldest brother who
died at 1 day old, her cousins, beautiful flowers, heard beautiful music,
went and got an answer for me on a medical issue! and has helped me since in
my opinion find an important link that guarenteed I had the correct
diagnosis, and finally was shown her home beyond with a pine tree in her
yard she said (we never knew that would be so vitally important to her). She
finally was able to move on peacefully with that knowledge.
Again, I was reassured that life goes on and God cares that much about each
of us and knows exactly of every part of us and will meet every need.
I pray your needs will me met as you face this most painful loss.
Love, Linda


-----Original Message-----
From: Glenn Rees <grees@...>
To: iem-family@onelist.com <iem-family@onelist.com>
Date: Saturday, November 27, 1999 4:28 AM
Subject: RE: [iem-family] Hemihypertrophy


>From: "Glenn Rees" <grees@...>
>
>Jennifer and family,
>
> we are the parents of Micah Rees although we have some very sad news to
>pass on.  just this last Saturday, Nov 20th
>Micah passed away.  he has had a very difficult year.  just two weeks ago
he
>had a bad infection of the respiratory system and also a bladder infection.
>they had put him on a brand new antibiotic and seem to be improving.  in
>fact, Friday he seemed to me doing rather well although he has been
sleeping
>a great deal.  in fact all week we were having problems with his body
>temperature.  he normally ran at 99.5 and above.  but all week his
>temperature was low. in the 94 to 96 degrees.
>it did not seem to be any thing to worry about but it may have been the
>first signs his systems were shutting down.  on Saturday morning at 4:30am
>his night nurse had a good night with him.  his ventilator was functioning
>fine.  at that time his feeding pump had alarmed that it was empty.  she
>went over to check the pump. she touched Micah's body and noticed it seem
>quite cold.  she then checked for a heart beat but heard none.  she came to
>wake Pam and I up to let us know that she thought Micah had passed away.
we
>got up to see if he was able to be stimulated but he did not respond.  we
>heard no heart beat.  we called a neighbor who is an ER doctor to come to
>the house and check Micah.  he came up and checked all of the vitals and
>other responses and pronounced him deceased at 5 am.  we were able to keep
>him at home with us until 1:30pm.  all of his nurses and most family
members
>were able to come by and say goodbye.  things were not too bad until they
>removed his body.  that was the first and only time he had gone away
without
>one of us with him.  he was cremated and we are having a memorial service
on
>Sunday, Nov.28.
> Micah would have been 18 on Nov.25.  he was a very wonderful son and a
real
>blessing despite all the difficulties.  we will always remember his
>contagious smile.  he got the biggest kick out of so many things.  we know
>now he will suffer no longer and that in Jehovah's memory, Micah will be
>resurrected.  what wonderful things we all will have in store at that time.
>we also are so fortunate to have Lilla (8) and Emmaline (5).  they seem to
>be doing well with all of this.
> we were sorry to have brought you this sad news but we know you both
>understand what sorrow and adjustments we will be going through.
>
> love, Pam and Glenn Rees
>
>-----Original Message-----
>From: Jennifer Saks [mailto:jennifer@...]
>Sent: Tuesday, November 16, 1999 12:27 PM
>To: iem-family@onelist.com
>Subject: Re: [iem-family] Hemihypertrophy
>
>
>From: Jennifer Saks <jennifer@...>
>
>At 10:42 PM 11/10/99 -0600, you wrote:
>>From: "Glenn Rees" <grees@...>
>>
>>does anyone have information on this disease particularly regarding a 6
mo.
>>child.
>>
>>thanks, glenn    grees@...
>
>Are you by any slim chance the Glen Rees who is the father of Micah Rees
>with Menkes Disease? If so, we'd love to hear from you!
>Kraig and Jennifer Saks
>(Nathan, Menkes Disease   6.Oct.1981 - 20.Nov.1995)
>
>IEM FAMILY FORUM
> -----------------------
> Travel Savings Alert
> http://bestbuystravel.com
>--------------------------
>  Find It Now
>  http://clickpick.com/
>-------------------------
>     My Weather
> http://clickpick.com/hw2/myweather.cgi
>----------------------------------------
>         Stop Smoking
>   http://just4u.com/forums/cgi/show.cgi?26/26.html
>
>>IEM FAMILY FORUM
> -----------------------
> Travel Savings Alert
> http://bestbuystravel.com
>--------------------------
>  Find It Now
>  http://clickpick.com/
>-------------------------
>     My Weather
> http://clickpick.com/hw2/myweather.cgi
>----------------------------------------
>         Stop Smoking
>   http://just4u.com/forums/cgi/show.cgi?26/26.html
>

I am sorry.  I have no children at the moment and have not heard of this
disorder.  Good luck.  Spring
-----Original Message-----
From: Dina Ramadan <mzaki@...>
To: iem-family@onelist.com <iem-family@onelist.com>
Date: Saturday, November 20, 1999 6:07 PM
Subject: Re: [iem-family]


>From: mzaki@... (Dina Ramadan)
>
>Dear members,
>
>I am asking those who have kids with citrullinaemia (urea cycle disorder)
>how often are you giving oral sodium benzoate and arginine. Is it once or 8
>or 6 hourly?
>
>Thanks
>
>D. Ramadan
>
>>IEM FAMILY FORUM
> -----------------------
> Travel Savings Alert
> http://bestbuystravel.com
>--------------------------
>  Find It Now
>  http://clickpick.com/
>-------------------------
>     My Weather
> http://clickpick.com/hw2/myweather.cgi
>----------------------------------------
>         Stop Smoking
>   http://just4u.com/forums/cgi/show.cgi?26/26.html
>

Jennifer and family,

	 we are the parents of Micah Rees although we have some very sad news to
pass on.  just this last Saturday, Nov 20th
Micah passed away.  he has had a very difficult year.  just two weeks ago he
had a bad infection of the respiratory system and also a bladder infection.
they had put him on a brand new antibiotic and seem to be improving.  in
fact, Friday he seemed to me doing rather well although he has been sleeping
a great deal.  in fact all week we were having problems with his body
temperature.  he normally ran at 99.5 and above.  but all week his
temperature was low. in the 94 to 96 degrees.
it did not seem to be any thing to worry about but it may have been the
first signs his systems were shutting down.  on Saturday morning at 4:30am
his night nurse had a good night with him.  his ventilator was functioning
fine.  at that time his feeding pump had alarmed that it was empty.  she
went over to check the pump. she touched Micah's body and noticed it seem
quite cold.  she then checked for a heart beat but heard none.  she came to
wake Pam and I up to let us know that she thought Micah had passed away.  we
got up to see if he was able to be stimulated but he did not respond.  we
heard no heart beat.  we called a neighbor who is an ER doctor to come to
the house and check Micah.  he came up and checked all of the vitals and
other responses and pronounced him deceased at 5 am.  we were able to keep
him at home with us until 1:30pm.  all of his nurses and most family members
were able to come by and say goodbye.  things were not too bad until they
removed his body.  that was the first and only time he had gone away without
one of us with him.  he was cremated and we are having a memorial service on
Sunday, Nov.28.
	 Micah would have been 18 on Nov.25.  he was a very wonderful son and a real
blessing despite all the difficulties.  we will always remember his
contagious smile.  he got the biggest kick out of so many things.  we know
now he will suffer no longer and that in Jehovah's memory, Micah will be
resurrected.  what wonderful things we all will have in store at that time.
we also are so fortunate to have Lilla (8) and Emmaline (5).  they seem to
be doing well with all of this.
	 we were sorry to have brought you this sad news but we know you both
understand what sorrow and adjustments we will be going through.

	 love, Pam and Glenn Rees

-----Original Message-----
From: Jennifer Saks [mailto:jennifer@...]
Sent: Tuesday, November 16, 1999 12:27 PM
To: iem-family@onelist.com
Subject: Re: [iem-family] Hemihypertrophy


From: Jennifer Saks <jennifer@...>

At 10:42 PM 11/10/99 -0600, you wrote:
>From: "Glenn Rees" <grees@...>
>
>does anyone have information on this disease particularly regarding a 6 mo.
>child.
>
>thanks, glenn    grees@...

Are you by any slim chance the Glen Rees who is the father of Micah Rees
with Menkes Disease? If so, we'd love to hear from you!
Kraig and Jennifer Saks
(Nathan, Menkes Disease   6.Oct.1981 - 20.Nov.1995)

IEM FAMILY FORUM
  -----------------------
  Travel Savings Alert
  http://bestbuystravel.com
--------------------------
   Find It Now
   http://clickpick.com/
-------------------------
      My Weather
  http://clickpick.com/hw2/myweather.cgi
----------------------------------------
          Stop Smoking
    http://just4u.com/forums/cgi/show.cgi?26/26.html

Dear Dina,
The usual dosing schedule for SB and arginine in children with UCDs is 4
times per day.

Best regards,
Cindy Le Mons
Co-president
National Urea Cycle Disorders Foundation
http://www.nucdf.org

> -----Original Message-----
> From: Dina Ramadan [mailto:mzaki@...]
> Sent: Saturday, November 20, 1999 7:56 AM
> To: iem-family@onelist.com
> Subject: Re: [iem-family]
>
>
> From: mzaki@... (Dina Ramadan)
>
> Dear members,
>
> I am asking those who have kids with citrullinaemia (urea cycle disorder)
> how often are you giving oral sodium benzoate and arginine. Is it
> once or 8
> or 6 hourly?
>
> Thanks
>
> D. Ramadan
>
> > IEM FAMILY FORUM
>  -----------------------
>  Travel Savings Alert
>  http://bestbuystravel.com
> --------------------------
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>   http://clickpick.com/
> -------------------------
>      My Weather
>  http://clickpick.com/hw2/myweather.cgi
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>    http://just4u.com/forums/cgi/show.cgi?26/26.html
>

If you have your urine checked for methylmalonic acid and it is clear does
that mean you don't have this disorder even if you have mild symptoms of
this and respond to the B12 shots? I only respond with hydroxycobalamin tho.
Linda

-----Original Message-----
From: emtech-journey <emtech-journey@...>
To: iem-family@onelist.com <iem-family@onelist.com>; hansen@...
<hansen@...>; Emtech-journey\ @ic.net p; <Emtech-journey\ @ic.net p;>
Date: Saturday, November 20, 1999 7:30 AM
Subject: [iem-family] (no subject)


>From: emtech-journey <emtech-journey@...>
>
>
>hansen@...     wrote:
>My best friend's daughter was diagnosed with Methylmalonic
>Acidemia just last week.  The baby is almost 6 months of age.  We
>are looking for help and hope in this trying time.  If I could be
>added on the mailing list or where I could get information about
>this disorder, it would be greatly appreciated.  My e-mail is
>hansen@....  This has come as a shock to all and we are
>looking for good news.  Thank you for responding to this quickly.
>Spring Hansen
>
>
>
>Hi!
>Lots of resources exist...
>http://www.alltheweb.com and found
>these hits among many others.
>Good luck!
>
>
>
>From:  http://www.healthcentral.com/peds/top/001162.cfm  :
>
>
> methylmalonic acidemia
>Definition:
>A group of inherited metabolic disorders that cause the
>accumulation of methylmalonic acid in the body and episodes of
>severe acidosis and ketosis that can be fatal.
>
>Causes, incidence, and risk factors:
>Defects in the metabolic pathways of methylmalonic acid, succinic
>acid, and vitamin B12 activity are responsible for the bouts of
>acidosis and ketosis. Infection or high protein intake may
>precede episodes of acidosis. Untreated acidosis progresses to
>coma followed by death.
>
>Prevention:
>Following a low-protein maintenance diets and avoiding infection
>help to reduce recurrent attacks of acidosis.
>
>Symptoms:
>decreased muscle tone (hypotonia)
>failure to thrive
>delayed development
>
>Signs and tests:
>Physical examination and laboratory testing shows signs of
>acidosis, ketosis, and elevated serum ammonia.
>
>Tests:
>serum electrolytes (chem-20)
>serum ammonia levels (see ammonia - test)
>serum ketones
>serum methylmalonic acid levels
>enzyme assay in cultured amniotic cells for methylmalonyl CoA
>mutase activity
>
>Treatment:
>Long-term administration of alkalinizing agents (such as
>bicarbonate) help to prevent episodes of acidosis. Large doses of
>vitamin B12 may be given during acute attacks. A low-protein diet
>must be maintained.
>
>Expectations (prognosis):
>Affected infants may not survive their first attack. Recurrent
>attacks of acidosis are expected.
>
>Complications:
>coma
>fatal outcome
>
>Calling your health care provider:
>Call to see your health care provider immediately if you develop
>signs of acidosis such as headache, decreased alertness,
>disorientation, blurred vision, irritability, or restlessness.
>
>
>
>Also, from:
>
>http://www.babycenter.com/expert/4470.html
>
>
>
>
>Methylmalonic acidemia is an inherited illness in which the body
>doesn't metabolize protein correctly. Most babies are diagnosed
>with the disease only after they get sick. Doctors don't usually
>test newborns for methylmalonic acidemia, but because it may
>cause the unexplained deaths and serious illnesses of some
>babies, many states are now thinking of including it among the
>many diseases for which doctors and midwives screen infants
>immediately after birth. With new technologies and research, we
>should see more of these genetic conditions diagnosed in the
>future, paving the way for prevention and treatment.
>
>According to Dr. Bruce Barshop and his clinical staff in the
>division of metabolic genetics at the University of California
>San Diego School of Medicine, a deficiency in the body's
>metabolism of methylmalonic acid, a type of amino acid, causes
>methylmalonic acidemia. If a person with this condition eats too
>much protein, his capacity to digest and use the protein
>overloads the deficient enzyme system.. Too little dietary
>protein triggers the body to break down its own protein, which
>can also overwhelm the deficient enzyme. The disorder is
>life-threatening and special problems can arise during infections
>or times of stress.
>
>Parents may need to monitor their child's diet, which can be
>crucial and tricky. Some people respond to vitamin B-12.
>Carnitine, a natural nutrient, can also work. We recommend
>consulting a dietitian and a physician experienced in the
>treatment of inherited metabolic disease.
>
>You may also want to contact the Organic Acidemia Association,
>which publishes a newsletter that provides information and
>support to families. You can write to the organization at OAA,
>2287 Cypress Avenue, San Pablo, CA 94806. You can also call OAA
>at (510) 724-0297, or check the OAA Web site.
>
>--Suzanne D. Dixon, M.D., M.P.H., with consultation from Bruce
>Barshop, M.D., UCSD School of Medicine
>
>
>
>
>
>
>Main Expert Page
>As with any source of medical or health care information, you
>should as a preliminary matter satisfy yourself that the
>credentials and experience of the source are suitable.
>
>IMPORTANT:The information provided through the Ask the Experts
>service is a general educational aid designed to help you discuss
>your unique medical or health concerns with your physician or
>qualified health care provider. You should not rely on the
>information as a substitute for personal medical or health care
>advice, or for diagnosis or treatment purposes. Always consult
>your physician or other qualified health care provider as soon as
>possible about any medical or health-related question, and do not
>await a response from our experts before such consultation.
>
>
>
>
>
>
>That OAA web address is:  http://www.just4u.com/oaa/index.htm
>
>>IEM FAMILY FORUM
> -----------------------
> Travel Savings Alert
> http://bestbuystravel.com
>--------------------------
>  Find It Now
>  http://clickpick.com/
>-------------------------
>     My Weather
> http://clickpick.com/hw2/myweather.cgi
>----------------------------------------
>         Stop Smoking
>   http://just4u.com/forums/cgi/show.cgi?26/26.html
>

Message text written by INTERNET:iem-family@onelist.com
>My best friend's daughter was diagnosed with Methylmalonic
Acidemia just last week.  The baby is almost 6 months of age.  We
are looking for help and hope in this trying time.  If I could be
added on the mailing list or where I could get information about
this disorder, it would be greatly appreciated.  My e-mail is
hansen@....  This has come as a shock to all and we are
looking for good news.  Thank you for responding to this quickly.
Spring Hansen
<

Spring,

My 16 year old son has MMA and despite some kidney damage from his
condition he is otherwise very healthy and doing well.  He takes formula
daily and maintains a low protein diet.  Hope this helps you some to know
there are other kids doing well with this condition.  There seems to be a
great variance in how individuals are affected be this condition.

Conrad Cota
Sacramento, California

Dear members,

I am asking those who have kids with citrullinaemia (urea cycle disorder)
how often are you giving oral sodium benzoate and arginine. Is it once or 8
or 6 hourly?

Thanks

D. Ramadan

Sorry Glenn i have never heard of it.

----- Original Message -----
From: Glenn Rees <grees@...>
To: <iem-family@onelist.com>
Sent: Thursday, November 11, 1999 4:42 AM
Subject: [iem-family] Hemihypertrophy


> From: "Glenn Rees" <grees@...>
>
> does anyone have information on this disease particularly regarding a 6
mo.
> child.
>
> thanks, glenn    grees@...
>
> > IEM FAMILY FORUM
>  -----------------------
>  Travel Savings Alert
>  http://bestbuystravel.com
> --------------------------
>   Find It Now
>   http://clickpick.com/
> -------------------------
>      My Weather
>  http://clickpick.com/hw2/myweather.cgi
> ----------------------------------------
>          Stop Smoking
>    http://just4u.com/forums/cgi/show.cgi?26/26.html
>

hansen@...     wrote:
My best friend's daughter was diagnosed with Methylmalonic
Acidemia just last week.  The baby is almost 6 months of age.  We
are looking for help and hope in this trying time.  If I could be
added on the mailing list or where I could get information about
this disorder, it would be greatly appreciated.  My e-mail is
hansen@....  This has come as a shock to all and we are
looking for good news.  Thank you for responding to this quickly.
Spring Hansen



Hi!
Lots of resources exist...
http://www.alltheweb.com and found
these hits among many others.
Good luck!



From:  http://www.healthcentral.com/peds/top/001162.cfm  :


  methylmalonic acidemia
Definition:
A group of inherited metabolic disorders that cause the
accumulation of methylmalonic acid in the body and episodes of
severe acidosis and ketosis that can be fatal.

Causes, incidence, and risk factors:
Defects in the metabolic pathways of methylmalonic acid, succinic
acid, and vitamin B12 activity are responsible for the bouts of
acidosis and ketosis. Infection or high protein intake may
precede episodes of acidosis. Untreated acidosis progresses to
coma followed by death.

Prevention:
Following a low-protein maintenance diets and avoiding infection
help to reduce recurrent attacks of acidosis.

Symptoms:
decreased muscle tone (hypotonia)
failure to thrive
delayed development

Signs and tests:
Physical examination and laboratory testing shows signs of
acidosis, ketosis, and elevated serum ammonia.

Tests:
serum electrolytes (chem-20)
serum ammonia levels (see ammonia - test)
serum ketones
serum methylmalonic acid levels
enzyme assay in cultured amniotic cells for methylmalonyl CoA
mutase activity

Treatment:
Long-term administration of alkalinizing agents (such as
bicarbonate) help to prevent episodes of acidosis. Large doses of
vitamin B12 may be given during acute attacks. A low-protein diet
must be maintained.

Expectations (prognosis):
Affected infants may not survive their first attack. Recurrent
attacks of acidosis are expected.

Complications:
coma
fatal outcome

Calling your health care provider:
Call to see your health care provider immediately if you develop
signs of acidosis such as headache, decreased alertness,
disorientation, blurred vision, irritability, or restlessness.



Also, from:

http://www.babycenter.com/expert/4470.html




Methylmalonic acidemia is an inherited illness in which the body
doesn't metabolize protein correctly. Most babies are diagnosed
with the disease only after they get sick. Doctors don't usually
test newborns for methylmalonic acidemia, but because it may
cause the unexplained deaths and serious illnesses of some
babies, many states are now thinking of including it among the
many diseases for which doctors and midwives screen infants
immediately after birth. With new technologies and research, we
should see more of these genetic conditions diagnosed in the
future, paving the way for prevention and treatment.

According to Dr. Bruce Barshop and his clinical staff in the
division of metabolic genetics at the University of California
San Diego School of Medicine, a deficiency in the body's
metabolism of methylmalonic acid, a type of amino acid, causes
methylmalonic acidemia. If a person with this condition eats too
much protein, his capacity to digest and use the protein
overloads the deficient enzyme system.. Too little dietary
protein triggers the body to break down its own protein, which
can also overwhelm the deficient enzyme. The disorder is
life-threatening and special problems can arise during infections
or times of stress.

Parents may need to monitor their child's diet, which can be
crucial and tricky. Some people respond to vitamin B-12.
Carnitine, a natural nutrient, can also work. We recommend
consulting a dietitian and a physician experienced in the
treatment of inherited metabolic disease.

You may also want to contact the Organic Acidemia Association,
which publishes a newsletter that provides information and
support to families. You can write to the organization at OAA,
2287 Cypress Avenue, San Pablo, CA 94806. You can also call OAA
at (510) 724-0297, or check the OAA Web site.

--Suzanne D. Dixon, M.D., M.P.H., with consultation from Bruce
Barshop, M.D., UCSD School of Medicine






Main Expert Page
As with any source of medical or health care information, you
should as a preliminary matter satisfy yourself that the
credentials and experience of the source are suitable.

IMPORTANT:The information provided through the Ask the Experts
service is a general educational aid designed to help you discuss
your unique medical or health concerns with your physician or
qualified health care provider. You should not rely on the
information as a substitute for personal medical or health care
advice, or for diagnosis or treatment purposes. Always consult
your physician or other qualified health care provider as soon as
possible about any medical or health-related question, and do not
await a response from our experts before such consultation.






That OAA web address is:  http://www.just4u.com/oaa/index.htm

From: "Glenn Rees" <grees@...>

does anyone have information on this disease particularly
regarding a 6 mo.
child.

thanks, glenn    grees@...



Hi-
www.alltheweb.com has a bunch of references...395 or so.
Anyway, here's one that provides a pretty good overview.
I wish you well...







From:  http://www.drgreene.com/990121.html

Can you help me find some information on the subject of
hemihypertrophy (greater-than-normal asymmetry between the right
and left sides of the body)?

Q: Hi, Dr. Greene, I'm hoping that you can help me find some
information on the subject of hemihypertrophy. Like I told you on
ivillage chat today, my darling daughter Jemma was diagnosed at
the age of 4 months. She is now 4 1/2 years old, and although I
have found an on-line support group for it, most of the members
don't know much about it either. We live in Australia and there
is very little information to be found. I seem to be the one
teaching Jemma's pediatrician about what little I do know. At the
moment, Jemma's discrepancy is at 4 cm, but just 2 months ago it
was 2 cm. Since she has been diagnosed the discrepancy has
remained fairly consistent before her most recent growth spurt.

It has been a long and lonely journey for us (the doctors here
don't seem to want to put me in contact with other Hemi
families...if there are any), so any information gives me the
backup I need to deal with this on our own. Once again thank you
for taking the time for me in the chat today and I look forward
to hearing from you.
Take Care
Vonda (a.k.a. Potubby2)
Australia

A: Vonda, I'm so glad you asked! Most people are not aware of
this important medical condition. Hemihypertrophy (also called
hemihyperplasia) is a greater-than-normal asymmetry between the
right and left sides of the body. This difference can be in just
one finger; just one limb; just the face; or an entire half of
the body, including half the brain, half the tongue and the
internal organs, or any variation in between. Someone with
hemihypertrophy might have acne on only one side of the face. The
skin is often thicker, and there may be more hair on the head, on
the larger side. Rarely, children can have crossed
hemihypertrophy (one leg and the opposite arm are larger than
their partners).

Theories abound as to the cause of hemihypertrophy. Perhaps it is
increased blood flow or decreased lymph drainage, or nerve or
hormone abnormalities. To date, not enough research has been
conducted to choose between the theories. We don't know the
cause; we do know that hemihypertrophy is usually not inherited.
People with hemihypertrophy can go on to have healthy, normal
children (Genetic Counseling, 1993; 4:119--126).

Hemihypertrophy, though, is a key warning signal to be on the
lookout for several kinds of cancers. Sadly, hemihypertrophy is
often not looked for and not diagnosed until after the cancer has
been discovered.

None of us is exactly symmetric. I recall seeing a series of
fascinating magazine photos of famous movie stars. The photos
were made by putting together 2 right sides and 2 left sides of
their faces. It was surprising how much this changed their
appearances. I had not noticed the asymmetry until it was
removed.

During World War II, a series of United States Army recruits was
carefully measured, and only 23% were found to have legs of equal
length. The average difference was a little more than 1/4 inch
(American Journal of Roentgenology, 1946; 56:616--623). One of
our ears is usually higher than the other. The two eyes are
slightly different. Only rarely are two nipples at the same
height and the same distance from the midline.

All of us are asymmetric, and where normal variation ends and
hemihypertrophy begins is controversial. But the distinction is
very important because hemihypertrophy carries with it real
risks. A definition first proposed 20 years ago still seems to me
to be the best general guideline: hemihypertrophy is a 5% or
greater difference in size or length between some aspect of the
right and left sides of the body (Clinical Orthopedics, 1979;
144:198--211). This translates into a leg-length difference of
about 1/2 inch for a 1-year-old, of about 1 inch for a
5-year-old, and of about 1-1/2 inches for an adult.

As children with hemihypertrophy grow, the discrepancy between
the two sides increases, but the relative proportions between the
two sides usually remains the same over the long haul. Variations
are found among different children, but in most children, the
discrepancy about doubles between the first and fifth birthdays,
which sounds like what has happened in Jemma.

Hemihypertrophy is thought to occur in about 1 in 14,000 people,
but this number may change as there is more agreement on a
definition and more people looking for it (Fortschritte der
Medizin (Munchen), 1977; 95:831--834). Some children with
hemihypertrophy also have a genetic syndrome, such as
Beckwith-Wiedemann syndrome, neurofibromatosis,
Klippel-Trenaunay-Weber syndrome, or proteus syndrome. Although
these occur in the minority of children, each child with
hemihypertrophy should be evaluated by a geneticist to look for
associated conditions. Inguinal hernias, undescended testicles,
and unusual kidneys (renal cysts or horseshoe-shaped kidneys) are
more common in children with hemihypertrophy whether or not they
have other syndromes.

Because hemihypertrophy is a disorder of the body's normal
controls of growth, it is not surprising that people with this
condition also have a higher rate of cancer. Recently, 168
children with hemihypertrophy were very carefully followed up to
try to determine the true rate of cancer in children with this
condition. Just under 6% developed childhood tumors (American
Journal of Medical Genetics, 1998; 79:274--278). The most common
cancer is Wilms' tumor (of the kidney), followed by adrenal
carcinoma and liver cancer (hepatoblastoma).

Because most of the cancers occur in the abdomen, the
recommendation has been made (by the participants of the First
International Conference on Molecular and Clinical Genetics of
Childhood Renal Tumors--among others) that children with
hemihypertrophy receive a screening abdominal ultrasound every 3
months until age 7 years and at least a careful physical
examination every 6 months until growth is completed (I prefer
ultrasound).

This recommendation has now been called into question, many
arguing that because most children do not get these tumors and,
even for those who do, these tumors are fairly easy to treat even
if caught late, the screening is not cost effective. Be that as
it may, if it were my child, I would insist on the screening.

The next most immediate concerns are the orthopedic problems that
result from any leg-length discrepancy. Over time, scoliosis, or
curvature of the spine, commonly develops. This disappears when
the leg lengths are equalized, either with surgery or with
special shoes or lifts. Close contact with a skilled pediatric
orthopedist is a must.

Plastic surgery for facial discrepancies is sometimes warranted.
The best people to contact are a craniofacial team or the perhaps
people who repair cleft lip and palate in your area if no one has
experience with hemihypertrophy. Computed tomography (CT) scans
and computers can now be used to plan the repair for the best
outcome (Journal of Oral and Maxillofacial Surgery, 1987;
45:217--222).

These, Vonda are the major issues. I'd be happy to talk with you
more about them in chat.

Alan Greene, M.D., F.A.A.P.
January 21, 1999

At 10:42 PM 11/10/99 -0600, you wrote:
>From: "Glenn Rees" <grees@...>
>
>does anyone have information on this disease particularly regarding a 6 mo.
>child.
>
>thanks, glenn    grees@...

Are you by any slim chance the Glen Rees who is the father of Micah Rees
with Menkes Disease? If so, we'd love to hear from you!
Kraig and Jennifer Saks
(Nathan, Menkes Disease   6.Oct.1981 - 20.Nov.1995)

My best friend's daughter was diagnosed with Methylmalonic Acidemia just last
week.  The baby is almost 6 months of age.  We are looking for help and hope in
this trying time.  If I could be added on the mailing list or where I could get
information about this disorder, it would be greatly appreciated.  My e-mail is
hansen@....  This has come as a shock to all and we are looking for good
news.  Thank you for responding to this quickly.  Spring Hansen

does anyone have information on this disease particularly regarding a 6 mo.
child.

thanks, glenn    grees@...

Hello everyone,

I would like to introduce myself and my family.

My name is janette, my partner is Paul, and our children are Christopher and
Adam.

Adam has  a condition called Homocystinuria, and i would like to contact anyone
with a member of their family with this disorder.

Please contact us on paul.gurrell@... or alternativley
janette_bolger@... .