M S U D Newsletter
Articles selected from Vol. 12, No.2 ,
December 1994
A
large banner in the lobby welcomed the attendees to the 1994 MSUD Symposium at
the Ramada Inn in Columbia, Missouri.Ê
The Symposium in June was skillfully planned and organized by the
professionals and parents from the area.Ê
Total attendance was approximately 210.Ê
Of these, 157 were adults (24 professionals) and 53 were children.Ê There were 29 persons (adults and children)
with MSUD.Ê Sixty-three families were
represented by at least one spouse÷a good representation considering our
address list numbered about 175 at that time.Ê
Those attending traveled from Canada and many States including Hawaii.
As
the Symposium ended, comments from the parents were very positive.Ê The hospitality sites provided a wonderful
opportunity for families and professionals to meet, talk and snack after the
daily sessions.Ê Susan Smith, M.S.W.
kept the sessions moving and on schedule÷a tug on the microphone cord reminded
speakers their time was up.Ê The topics
were informative, well planned and flowed nicely together.Ê The sad note is that not all families could
attend.Ê The good note is that videos of
the Symposium were available.
The
Symposium presentations are summarized on the following pages.Ê The summaries, with one exception, are from
notes supplied by Tish Fuller and Sandy Bulcher, combined with a few of my
own.Ê (Dr. Singh, nutritionist, graciously
submitted a summary of her presentation, ãUpdate of Nutrition Management of
MSUDä after I requested it at the last minute.)Ê I hope this gives a general overview of the information shared
and whets your appetite for more.
Feed the Child, Treat the
Disease
Presented by Helen
Berry, M.D.÷Cincinnati, Ohio
In MSUD, there is a metabolic
block at the second step of the metabolic process.Ê Babies start out OK, but, if untreated, they will begin with
hyperactivity, convulsions, coma and eventually death.Ê There is a rapid progression when the BCAA
(branched-chain amino acids) levels become elevated.Ê Ten to fifteen days may be too late to correct any mental
problems that occur from the elevated levels.
MSUD is difficult to treat
because there are three amino acids to keep balanced instead of just one as in
PKU.Ê In the early years, the doctors
mixed the childâs formula using the required BCAA.Ê At first methionine was also restricted in the diet.
The first child treated was
born to a California family in June â59.Ê
(A sibling died earlier from MSUD.)Ê
It was first thought she had colic but they noticed the sweet odor on
the 11th day.Ê She was taken to New York
where they confirmed the diagnosis.Ê
When the child was around 22 months, blood testing procedures had
improved enough to determine a difference between methionine and
alloisoleucine.Ê So methionine was added
back to the diet.Ê She stayed at the
hospital under the care of Dr. Snyderman for four years.Ê She got sick every time they took her home
and was not growing well.Ê She was 4¸
years old before she passed the third percentile.
This child moved to OH in â72
and became Dr. Berryâs patient.Ê In â77
she joined a group home for women. ÊAt
18, her IQ was 64, and she had the social skills of a 12 year old.Ê She eventually got a job at a fast food
restaurant.Ê When she started gaining
weight, it was suspected that she was cheating on her diet.Ê At 19 years an EEG showed a generalized
convulsive disorder.Ê In 1990, she was
admitted to a mental institute for confusion.Ê
She was placed on her diet and improved.Ê As far as it is known, she still may be cheating, but is doing
well.Ê It is important to train
physicians to deal with adults with MSUD.
Another child, born in
Chicago in 1976, eventually became Dr. Berryâs patient.Ê She was hospitalized at one week of
age.Ê Although lethargic and not eating,
she showed no elevated BCAA levels.Ê She
was later released with a diagnosis of a mental episode.Ê In the hospital, she had been on a
protein-free IV, so her metabolic condition stabilized.Ê She was hospitalized again at four months of
age with projectile vomiting.Ê A nurse
noticed the sweet odor leading to a correct diagnosis and treatment for MSUD.
(At this time Scientific
Hospital Supplies in England was making MSUD Aid.Ê It was difficult to import as customs raised the fees from 5 to
25%.Ê They said it was a petroleum product.)
This second girl and her
family moved to Dayton, OH.Ê A
pediatrician cared for her at first and then turned her over to the
clinic.Ê In 1978 she became Dr. Berryâs
responsibility.Ê She had had poor growth
and many hospitalizations.
Dr. Berry noted leucine
plasma levels were reduced and growth improved when valine was added to the
diet.Ê She made a DNPH kit for the
mother with the followingÊ instructions:
ð A trace precipitate within 60 sec. and negative
ketones = no treatment required.
ð A slight precipitate and negative ketones = watch
the patient.
ð A moderate precipitate within 30 sec. and positive
or negative ketones = increase fluids, decrease BCAA.
ð A strong precipitate within 10 sec. and positive
ketones = eliminate BCAA from diet; repeat test every 12 hours.
They did a series of studies to see why she had so many
hospitalizations.Ê It was determined to
be very important to monitor all three amino acids.Ê On a fast, BCAA levels started rising after
six days.Ê The lowest level was an hour
after each meal and the highest was after an overnight fast.Ê The following guidelines for plasma
concentrations were used for treating the patient.
|
Leucine: |
20 mg/kg or 180-70 micromols/l |
|
Isoleucine: |
12 mg/kg or 70-280 micromols/l |
|
Valine: |
14 mg/kg or 200-800 micromols/l |
The girl now has isoleucine and valine added to her
formula to keep her levels stable.Ê So
far, there have been no more acidotic episodes.
QUESTIONS FROM THE AUDIENCE:
Q.
Originally, a girl had her diet supplemented with isoleucine.Ê Now she is 17 and there are no problems with
low isoleucine.Ê Why?
A. Dr. Berry feels that puberty may affect MSUD people to
the point of improving the tolerance.Ê
However, another mother in the audience said her daughterâs tolerance is
worse since she began puberty.
Q. What would a low leucine level be?
A. 150 to 200 micromols/liter of leucine.
Q. What causes hypoglycemic conditions?
A. High leucine levels seem to affect this condition, but
more work is needed before it is fully understood.Ê We need studies to see the relationship between amino acids and
insulin.
DNA Review and Update
Presented by Kathy
Grange, M.D.÷Columbia, MO
Chromosomes are made of genes and contain DNA.Ê The location of the genes is random, and the
MSUD genes are located on many different chromosomes.Ê Mutations (inborn errors) occur when there are deletions ofÊ base pairs, insertions, or wrong
combinations. ÊIn a mutation, there may
be no enzyme where there should be, or an abnormal enzyme.Ê The abnormalities are what usually causes
metabolic disorders.
Mennonites are homozygous (the same mutation exists on
both genes).Ê Non‑Mennonites have
a good probability of being compound heterozygous, one mutation from the mother
and one from the father.Ê MSUD is more
complicated than other genetic disorders due to so many mutations.
Gene therapy requires locating and isolating the
mutated gene.Ê Family members can be
tested for carrier status if the mutation is known.Ê The mutation in Mennonites is known.
There are currently two methods of gene
therapy÷injection of ãfixedä genes into cells and viral mediated
transfers.Ê Direct injection is tricky
and requires the removal of tissue from the source, injection and growth in a
cell culture, and placement back into the source.Ê With viral mediated transfers, it is necessary to prevent the
virus from acting on its own (for example, a virus can insert itself in the
wrong place and cause problems).
Researchers have successfully done viral mediated
transfers in a beaker for MSUD.Ê The
next step is to try it on cows known to have MSUD.Ê There are still questions as to how long the enzymes will remain
active once the person has been ãcured.äÊ
It may be long term, or there may be periodic doses required, or it may
be a supplement to diet.
Panel: Ask the Doctor
Panel Members: Drs.
Hillman, Berry, Morton, Grange
Q. What causes the stomach cramps?
A. The
formula is similar to predigested (highly concentrated) formula; it can cause
irritation in the stomach and intestines, particularly when the formula is
thick.
Q. Why are
valine and isoleucine used when MSUD people are sick?
A. When
there is a high leucine level, more of the other amino acids are required to
make protein (use the excess leucine) to lower the leucine level.Ê In addition, sufficient calories are
necessary for protein synthesis.Ê The
amounts of additional valine and isoleucine vary depending on the patients,
circumstances, etc.Ê (A good assumption
is to try to make the valine and isoleucine levels as close to normal as
possible.)
Q. When
leucine levels are elevated, where does the leucine go and what damage does it
cause?
A. The leucine goes to the next metabolic step, forming
the keto acids, which are present in the urine.Ê Leucine inhibits phenylalanine in the brain.Ê However, the keto acids are the primary
poison.Ê These acids interfere with
growth, causing malnutrition.Ê They also
draw water into the cells.Ê
Q. Why are
there different management techniques (counting leucine vs. counting protein)?
A. Persons with MSUD can be normal when on
well-controlled diets.Ê However, if
these same people are on poor diets, they will perform poorly.Ê Children with leucine levels 5 to 10 mg./dl
may behave like children with Attention Deficit Disorder.Ê Dr. Morton feels that most problems
experienced when levels are high can be reversed if the people are kept on well
controlled diets.Ê He likes to see
leucine levels at 2 to 3 mg./ dl.Ê
People kept at 500‑1000 micromols/Liter of leucine do not do as
well as people under 500 (behavior is worse, etc.).Ê In addition, persons with MSUD seem to have better recuperative
abilities (such as from a coma) than most people.
Q. Does
isoleucine keep leucine and valine stable?
A. All three are needed in the correct balance and
available at the right time of protein synthesis to function correctly.Ê However, leucine seems to be the only one
that causes reactions.Ê But you cannot
regulate just leucine.Ê All three must
be balanced.
Q. Do all three amino acids cause ataxia?
A. If the valine is high, there are no symptoms.Ê If isoleucine or leucine is high, ataxia
will occur.
Q. Does it matter if a person with MSUD fasts or does
not eat regularly?
A. Yes!Ê
Individuals with MSUD can go a normal time between meals, but it is
important to regularly take in carbohydrates.Ê
The BCAAs have a lot to do with appetite control.
Elsas Research Update
and Understanding the Role
of Formula in Treating the Disease
Presented by Richard
Hillman, M.D.÷Columbus, Missouri
Dr. Hillman opened with the statement, ãWe want you to
know more than your doctor.äÊ He
reported on a research project by Dr. Elsas from Atlanta, Georgia.Ê At the Toronto Symposium, Dr. Elsas had a
number of children with MSUD drink a small amount of leucine and then blow into
a balloon.Ê He measured the carbon
dioxide expired.Ê (See the Dec. â92
issue of the Newsletter.)
The children had a very low amount of leucine in their
breath compared to adults without MSUD.Ê
Unfortunately, carriers of the MSUD gene could not be readily
identified, because their levels were too close to normal.Ê The enzyme level correlated with the leucine
level in the breath, but the test is not practical to use except to possibly
help establish early dietary treatment.Ê
It seems more important to adjust the diet to the individual than to the
level of enzyme activity.
Since the enzyme block is in the conversion to keto
acids, the levels of keto acids seem to be more important, but it is easier to
measure BCAA (branched-chain amino acids).Ê
The BCAA need to be turned back into their keto acids so the body can
use them or eliminate them via the urine.Ê
The amino acids, alanine and glutamine, add ammonia to the system
helping to turn keto acids back into amino acids.Ê MSUD formulas should be supplemented with these two amino acids.
Formula is therapeutic and should be given when sick.
It can be given with an NG tube, IV, or central line (which can be used when
administering TPN).Ê Dialysis removes
BCAA but does not remove their keto acids very well.
QUESTIONS FROM THE AUDIENCE
Q. Why isnât alanine and glutamine automatically added
to the formula for all persons with MSUD?
A. Dr. Hillman recommends it.Ê Glutamine is unstable and has a shelf life of 18 months.Ê Glutamine loses one ammonia, causing a bad
smell (thus the comment that it tastes bad).Ê
However, when refrigerated, it is kept more stable and doesnât have any
flavor.
Q. Are doctors talking to each other about the different
techniques forÊ treating and managing
MSUD?
A. Somewhat, but not very well.
Update of Nutrition
Management of MSUD
Submitted by: Rani Singh, PhD.÷Atlanta, Georgia
MSUD is a genetic disorder.Ê Children with this disorder cannot use the BCAA (branched-chain
amino acids) in the normal way.Ê The
outcome in these children is affected by several factors.Ê These include age of diagnosis, degree of
enzyme impairment, time at which diet therapy is begun and adequacy of
management.Ê Management requires an
aggressive protocol to reduce plasma BCAA to avoid central nervous system
changes.Ê Goals of long-term nutrition
support are:
a) Normal plasma amino acid concentrations
b) Urine free of branched-chain keto acids (BCKA)
c) Normal growth, development and status.
Nutritional management requires initiation of
nutrition support immediately with BCAA free medical foods (formula).Ê Depending on clinical status, patients are
fed by nipple, nasogastric (N-G) tube, intravenous infusion (IV), or a
combination of these methods.Ê When
plasma leucine reaches the upper limit of treatment range, leucine is added
back gradually using infant formula or whole cowâs milk depending on the
childâs age.
Over restriction or imbalance of BCAAs has adverse
effects.Ê These include anemia,
desquamation (shedding of the skin) and failure to thrive.Ê Free isoleucine and valine can be used to
correct some imbalances.Ê It is very
important to provide protein-free sources to meet energy requirements.Ê In addition 100 to 500 mg of oral thiamine
per day may be provided for three months to evaluate the response.Ê Guidelines used for fluid requirements in
treating these children include:
Less than one month of age÷100-150 ml/kg/day
0-10 kg in weight÷100ml/kg/day
11-20 kg in weight÷1000ml+50ml/each kg over 10kg
Over 20kg in weight÷1500ml+20ml/each kg over 20kg
It was emphasized that energy requirements during
acute illness/surgery increase.Ê
Therefore aggressive nutrition support becomes necessary to prevent
catabolism which could be caused by poor oral intake or the stress of infection
itself.Ê Suggested nutrition protocol
during illness:
1. As soon as the child shows any signs of being sick,
natural protein should be reduced by half or eliminated.
2. Adjust energy intake (kilo-calories) through
medical food (protein-free) to at least maintenance levels. Try to add 10-20%
above maintenance levels.
3. All fluid needs could be provided through the
medical food mixture.
4. Give feedings and drinks every 1 to 2 hours in
small amounts to children less than 5 years old and older than three.
5. Continue all vitamins and medications at the same
dosage.
6. Minimum volume intake of 75% of prescribed intake
for two consecutive feedings and 85% of prescribed intake during 24 hours
should be acceptable.
7. If decreased intake continues for 24 to 48 hours,
make an effort to maintain intake by nasograstic tube using enteral pump.Ê The oral regimen is preferable to
intravenous therapy.
8. If nausea or vomiting persists and the gut cannot
be used, peripheral venous alimentation can be used for patients whose needs
are likely to be short term (2 to 5 days).Ê
Central hyperalimentation should be implemented for patients requiring
long term support.
In conclusion, immediate adequate energy and fluid
intake become important during acute episodes.
Therapy Dilemmas of the
Older Child With MSUD
Presented by Holmes Morton, M.D.÷Strasburg, Pennsylvania
Most of what is written about the care of children
with MSUD stops at one month of age.Ê
There is little consensus on proper treatment of the child with
MSUD.Ê Dr. Morton is interested in
writing a standard treatment protocol manual for doctors.
Protein tolerance is about 20 mg/kg from two years old
until adolescence.Ê It changes with the
rate of growth; there is an increased need for leucine during growth spurts.
With increased physical activity, protein is broken
down, causing fatigue, weakness and ataxia.Ê
This is due to the muscles depleting glycogen stores and breaking down
stored protein for energy.Ê It is best
to use high fat foods prior or during strenuous activity to provide energy.
Burns are catabolic injuries and sunburns can also
cause this breakdown of protein if adequate calories are not provided.Ê Fasting, even overnight, causes protein to
break down at the rate of 1gm/kg/day.Ê
All of this must be considered during sick days.Ê During sickness the child is not growing and
protein needs decrease.Ê It is important
to restrict activity during illnesses, provide adequate calories and make sure
there are no long fast periods.Ê Wake
the child every few hours to give formula/calories.
The anesthesia used for surgery doesnât cause any
changes in BCAA levels but should not be a kind that causes vomiting or
paralysis of the intestine.Ê In
orthopedic surgeries there is the danger of immobilization.Ê Not eating for 24 hours after surgery can
start catabolism (the break down of protein).Ê
Head injuries and surgeries, and some medications used with head
surgeries, cause extreme catabolic problems.Ê
In postoperative care, glucose and insulin IVs should be added to
decrease leucine levels rapidly.Ê
Glucose suppresses the growth hormone.
Cerebral edema is not clearly understood and cannot be
predicted by leucine levels.Ê Dr. Morton
has successfully used Phenobarbital, Manatol and glutamine to treat cerebral
edema.
Glutamine is highly concentrated in muscle cells and
inhibits muscle degradation in high concentrations (the cells donât grow unless
there is a high concentration of glutamine).Ê
It is important for the immune system.Ê
Dr. MortonÊ uses 200 to 500
mg/kg/day of glutamine when a patient with MSUD is sick.Ê Sick people donât make glutamine as well and
individuals with MSUD especially make less glutamine.Ê They only get about ¹ of the glutamine most people get in their
diets.Ê There is 4 mg/kg of glutamine in
the Ketonix formulas÷that is ¹ the normal amount.Ê Other formulas have even less.
Pancreatitis is recurring more often in patients with
MSUD.Ê Be on the lookout for
pancreatitis, hypoglycemia and diabetes.Ê
When someone with MSUD exhibits sweatiness, a feeling of unease, and
ãthe shakes,ä check the blood sugars.Ê
Dr. Morton does not believe that the MSUD formula necessarilyÊ causes hypoglycemia.Ê Problems with thirst may indicate
diabetes.Ê Check for sugar in the urine.
QUESTIONS FROM THE AUDIENCE
Q. Dr. Morton, do you routinely supplement the MSUD diet
with glutamine?
A.Ê If there is
great fatigue, poor appetite, or lack of energy, Dr. Morton will consider it.
Glutamine will not hurt; it is available in health stores.
West Coast Experience With
MSUD
Presented by Neil Buist, M.D.÷Portland, Oregon
There are 130 metabolic diseases treated in
Oregon.Ê Oregon was the first State to
set up screening for MSUD.Ê Dr. Buist
showed slides including the first infant with MSUD to be identified through
state screening (Monte Brubacher, son of Wayne and Joyce, 3/12/65-12/4/74).
Certain amino acids, vitamins and trace elements cause
the bad taste and smell in most formulas.Ê
Dr. Buist and the Oregon Clinic developed a good tasting MSUD formula
that Dr. Buist brought along to the Symposium.Ê
In it they eliminated some nonessential amino acids and adjusted the
amounts of others.Ê It is similar to the
new PKU formula Periflex, developed at the Clinic and distributed by S H S
North America (new name for Scientific Hospital Supplies).Ê The adults and children sampled the new MSUD
formula.*
There is the possibility of using the amino acids to
make foods that look and taste like their counterparts but do not contain the
BCAA.Ê However, amino acids cannot be baked.Ê They are best used in spreads.Ê There is research being done on a protein
free cheese.Ê Dr. Buistâs dream is to
make a BCAA-free hot dog someday!
Massachusetts has a law that requires manufacturers to
add a medical label to medical foods.Ê
This makes it easier to get insurance to pay for the foods.
Phenylalanine is a certain percentage of protein but
leucine amounts vary in different foods.Ê
A very general a rule for figuring leucine is to double the
phenylalanine amount in a food.
QUESTIONS FROM THE AUDIENCE
Q. Is MSUD included in the Oregon health plan?
A. MSUD is very well treated in the health plan, since
there is a treatment available, and death is the result if it is not treated
Q. What about the National health care plan?
A. Dr. Buist fears that the metabolic diseases will be
discriminated against, because they are of a minority group.Ê (Ted Kennedyâs health care plan includes
language for coverage of medical foods.)
*I was skeptical when Dr. Buist handed me a cup of liquid
and said, ãTaste it.äÊ Hm-m-m, it looked
good and yes, it even smelled good.Ê I
took a tiny sip and immediately took another drink.Ê To me it tasted like orange sherbet.Ê And believe it or not÷no aftertaste!Ê All of the other formulas make me gag at the smell and the taste
is worse than the smell.Ê This new
formula enthused the parents but not all the children.
Many children with MSUD are
skeptical of anything that looks a little different or is ãgood for them.äÊ Each child was served a cup of the formula
during one of their break periods in the activity room.Ê They were not told it was formula and their
reactions were video taped and shown later to the parents.
It was quite amusing to see them
look at this strange looking drink.Ê
Some drank it down without the least suspicion÷especially the siblings
of the children with MSUD.Ê Some would
hesitate, take a small sip, set it down and act so undecided.Ê Others with MSUD refused to touch it.Ê The teenagers and young adults liked
it.Ê Shayla thinks it would be great.
One girl with MSUD wouldnât taste
the drink, but her sister asked for refills during the childrenâs break and
later was filling her cup from the pitcher in the conference room. I think the
new formula would be great for those who dislike their current formula and for
the newly diagnosed.
Dr. Buist says it should be no
more expensive than the current formulas.Ê
It is not the ingredients that are expensive, but the processing.Ê It may be more expensive if the whole family
wants to drink it!Ê Imagine having formula
in the refrigerator that doesnât create a catastrophe if a friend begins to
drink it by mistake.Ê Hurry Dr. Buist,
hurry, get it on the market.
A Closer Look at Home
Monitoring Techniques
Presented by Richard Hillman, M.D.÷Columbia, Missouri
DNPH is a test that measures keto acids, ketones and
acetones.Ê Normal newborns do not
excrete ketones; their brains are using the ketones produced by the body.Ê DNPH will test positive when the BCAAs are
elevated in a child with MSUD.Ê It is a
good test to use for home monitoring.
Use an equal amount of urine and reagent.Ê When the reading is negative, it looks very
much like the reagent.Ê If the reading
is cloudy, the individual with MSUD has elevated levels.Ê If the reading shows a precipitate
(settlement on the bottom of the test tube), illness is definitely
indicated.Ê The solution gets more
orange with time after it is mixed.Ê It
is best to read the test right after the urine is added.
DNPH is a strong acid that will eat through material.Ê Refrigerating the solution in a dark bottle
will extend the shelf life, but the solution should warm up before it is used
to catch a slightly positive reading.Ê
It is possible to get a false positive with old DNPH.Ê Do a test on a person who does not have MSUD
to check it.
Newborns often produce a slightly cloudy reading that
is false.Ê A slightly cloudy solution
can be falsely positive due to the gels in the new disposable diapers.Ê Also the urine of babies is often mixed with
stool.Ê In addition, two antibiotic
prescriptions for newborns cause false positive readings.
Vaginal discharge can also cause false positive
readings in older girls.Ê A clean catch
urine sample must be taken to avoid these false readings.Ê DNPH is very important for testing older
children who are harder to judge if their levels are off.Ê One sign of high levels is deterioration in
handwriting.
Ketosticks measure ketones that are not from MSUD, but
produced from fat breakdown, such as when a person is very ill or has
fasted.Ê DNPH is much more sensitive.
Dr. Hillman demonstrated the DNPH by using the urine
from a baby with MSUD, who was sick at the time.Ê The reaction was very positive with an immediate, very cloudy
(opaque) reaction.
Nutrition Panel
Panel members: Singh,
Buist, Trahms & Grasela
Q. Is it OK to freeze the MSUD formula after it is
prepared?
A. Freezing the formula can break down the fat
emulsion.Ê It is not necessarily a good
idea, but there is no chemical problem with freezing.Ê Freezing will make the formula difficult to mix.
Q. How long will mixed, prepared formula last?
A. It is recommended that the prepared formula be treated
like cowâs milk.Ê Bacteria formation is
the biggest concern if it is not refrigerated.Ê
Within four to eight hours, bacterial growth can start.
Q. What are some high calorie, low‑protein foods?
A. Baking mixes are the best.Ê What is best is what the child will eat.Ê The lower fat products are easier on the
stomach.
Q. Is it OK to give persons with MSUD aspartame
(Nutrasweet)?
A. Yes, only persons with PKU should avoid
aspartame.Ê Most persons with MSUD need
calories and do not need this product.
Q. Why do computer programs vary on the protein content
in various foods?
A. The database is old and needs to be updated.
Q. How often should you check DNPH and have blood work
performed?
A. When there is a rapid growth period, DNPH and blood
work must be done more frequently.
WHAT THE FAMILIES HAD TO
SAY
The symposium was an interesting meeting for us. We did
not realize there are so many families with MSUD children.Ê Making new friends and meeting old ones was
the highlight of the Symposium for us. The professional talks were very informative,
too.Ê We had an enjoyable trip.
÷A father
We enjoyed being at the Symposium.Ê It was very well organized and the facility
was ideal.Ê We were encouraged to
see other families with MSUD children have a normal family life.
We treasure the time spent with other MSUD parents and
friends.Ê The speakers did their duty to
educate us about new products and ideas.Ê
It was refreshing to be reminded again of our parental duties in caring
for our children.
÷A mother
We had a very enjoyable time visiting with the parents
once again.Ê It was well organized and
each speaker was interesting.Ê We need
all the encouragement and advice we can get to care for these children.Ê We also thought the motel was a great place
to have it.
Ê ÷A mother
It was a well-organized conference with very good
speakers.Ê The facility was great.Ê We could not ask for better accommodations
and they had a pool!Ê Next time I wish
they would request notes from the speakers and distribute them to the group so
we can follow along and keep the notes for later use.
I felt really welcomed at the Symposium and was very
impressed with Dr. Holmes Morton.Ê I
found the information on glutamine and isoleucine supplementation
fascinating.Ê I took a lot home from
this conference that I have been able to put to good use in caring for our
son.Ê I learned not to view the
ãformulaä as such, but as a normal diet requirement that has now been renamed
by our seven year old as Mikeâs Maxi-Milk.Ê
He was getting upset that people would think he was a baby if I called
it formula.
÷Anna Toth
It was interesting to be there and realize we are not
alone in caring for these children.Ê We
enjoyed the speakers, especially Neil Buist. He made us realize how far they
have come in treating these children.Ê
We have many good memories.
÷A mother
Even though the 1994 Symposium was a first for us, it
will never be the last if God permits.Ê
We so thoroughly enjoyed it.Ê We
enjoyed the speakers and gaining new insights and knowledge about MSUD, but
most of all, it was a thrill to see someone else in our boat.
It was so ãweirdä not to have to explain what MSUD was
to everyone we met.Ê We felt such a
kindredness to everybody.Ê It was like a
big family.Ê We were so uplifted to see
so many kids that were doing so well.Ê
All of the children were beautiful.
Weâll never forget meeting our first new friend with
MSUD.Ê After we arrived at the hotel, we
were hoping we were at the right place.Ê
We decided to take a swim.Ê
Sherwood started talking to a little girl who was swimming and playing
with her brother.Ê When he found out she
had classic MSUD, he and I were overwhelmed.Ê
She was so perfect.Ê This was
Leanna Peters.Ê Then, of course, we met
her mother, Mary Ann who knew all about MSUD. ÊFrom there on, we kept being overwhelmed.Ê It was a wonderful, fantastic experience and
we recommend everyone participate at the 1996 Symposium if at all possible.Ê It gives you new hope to come home too.Ê Thanks again for all of the hard work.Ê Hope to see you in Ohio.
÷Sherwood & Sonya Webb
I could not do justice in a
Newsletter to the material presented at the Symposium.Ê There was so much of value and I hope many
of you will take advantage of the videos.Ê
One mother arrived home from the meeting to find her daughter ill.Ê She told me the information she had heard
was extremely valuable in helping herÊ
provide adequate treatment for her daughter.Ê She thinks the outcome could have otherwise been disastrous.Ê Others have testified to the improvement in
their children since they have a better understanding of the diet and its role
in MSUD.
For most families, sharing on a
family to family level is so refreshing, as attested to in the personal notes
above.Ê And there are always times of
humor÷one being the swimming pool incident.
A father attending
the Symposium was supervising his child in the pool when he began a conversation
with another father staying at the motel.Ê
He mentioned that many of the children in the pool have maple syrup
urine disease.Ê The other father quickly
motioned to each of his children to come out of the pool and they left.Ê The next day or maybe that night, I am not
sure, the pool was loaded with chlorine tablets.Ê Several fathers threw some out but enough was left to burn the eyes
of the swimmers.Ê It wasnât until the
meeting was over that some of the parents began to wonder.Ê Did the ãurine diseaseä have anything to do
with the highly chlorinated pool?
Chili Rigatini
|
¸ c. low protein Rigatini |
1 t. chili powder |
|
2 T. margarine |
¹ c. water |
|
1 small onion |
¹ c. Coffee Rich |
|
4 oz. can mushrooms |
1 T. cornstarch |
|
¸ c. tomatoes, fresh or canned |
|
Cook Rigatini as directed.Ê Saute onions and mushrooms in margarine.Ê Add tomatoes and chili powder.Ê Mix water, Coffee Rich and cornstarch, then
add to tomato mixture and cook until thickened.Ê Add Rigatini and serve.Ê
(Vegetables may added.)
| Protein | Leucine | Calories |
|
| Total Recipe: |
5.0 gm |
280 mg |
510 |
| 1 cup serving: |
1.7 mg |
93 mg |
170 |
Cheese Sauce (like Cheez
Whiz)
Submitted by Glenda Groff
|
2 T. butter |
1/2 to 3/4 t. salt |
|
2/3 c. Coffee Rich |
2 T. cornstarch |
|
1/8 c. low protein Cheese Flavored Sauce Mix* |
|
Melt butter.Ê
Mix other ingredients together.Ê
Add to butter; heat and stir until thickened.Ê Use as a spread on low pro bread, Aprotein Crackertoast,*Ê or low pro crackers and pretzels.
|
Total recipe: |
1.6 gm protein |
109 mgÊ
leucine |
569 calories |
* The Cheese Flavored Sauce Mix is a powder sold in a
4.5 oz. jar.Ê The Aprotein Crackertoast
has 0.1 gm of protein per cracker.Ê The
cheese mix and CrackertoastÊ are
available from:
Dietary Specialties,Inc.
865 Centennial Ave.
Piscataway, NJ 08854
1-888-636-8123
Steveâs Peanut Butter
|
¹ c. cornstarch |
¹ t. salt |
|
|