M S U D Newsletter
Articles
selected from Vol. 11, No. 2, December 1993
A BRIEF HISTORY OF
MAPLE SYRUP URINE DISEASE
(MSUD)
RJ Allen, M.D., University
of Michigan
Author's note:Κ The 1990s were proclaimed by the President
as the Decade
of the Brain.Κ The names of some,
certainly not all, of the scientists who made significant contributions to the
understanding of this unique metabolic disorder, I have indicated with parentheses.Κ I believe this special decade is a symbol of
the enormous benefit of Newborn Screening in recognizing rare metabolic
disorders in children before clinical illnesses occurred that often brought
them to medical attention.Κ
Unfortunately, prevention of brain damage (the cause of mental
retardation, cerebral palsy, and epilepsy) has not achieved the recognition it
deserves even in this very special decade.Κ
My award for this decade acknowledges all these little boys and girls,
and their families, who permitted physicians to try to save their lives and "brains" with the limited
scientific knowledge we had available.
In
1966, nearly 30 years ago, a two week old infant was transferred to the
University of Michigan Hospital with suspected "meningitis."Κ
Bacterial meningitis, a central nervous system (CNS) infection, was
always the first consideration in a suddenly sick infant.Κ The little baby boy was very sick and in
early stages of coma.Κ At the time, no
significance was given to a family history of a prior sibling who died in 1958
of an unknown cause.Κ Infection was
quickly eliminated in this child.Κ There
was not a peculiar "sweet" odor like maple
syrup!Κ However, the addition of
2,4-DNPH to the urine gave a strongly positive reaction.Κ The urine also tested positive to Ferric
Chloride (FeCl).Κ Both tests were
routine in my laboratory as a screen for possible metabolic disorders.
My
research was focused on metabolic disorders, especially PKU.Κ Both tests were positive, but FeCl gave a black-brown
color rather than the expected "green" observed in PKU.Κ The positive DNPH was also a "strong positive," giving an opaque yellow reaction.ΚAnother special test was then done on blood
and urine specimens.Κ My NIH grant
provided a remarkable new instrument known as an amino acid analyzer.Κ In 1954, the research of Moore, Spackman and
Stein first reported the usefulness of this new method, column chromatography.Κ
This method permitted the precise quantitative determination of amino
acids in small biologic specimens.
We
pursued a thorough search of scientific literature.Κ A paper, published in 1954 in a pediatric journal (Dr. J. Menkes)
describing a progressive neurological disorder in a family affecting several
children with an unusual substance in the urine, proved to be especially
interesting.Κ This disorder was one to
be identified as maple syrup urine disease (MSUD).Κ I later learned the author of the report, Doctor John Menkes,
joined the training program at the Neurological Institute of Columbia
University in New York a short time after I completed my training before
returning to Ann Arbor.
In
the early 1960s other investigators (Dr. J. Dancis) soon identified MSUD as a
specific metabolic disorder due to an enzymeΚ
deficiency in the metabolism of a specific group of branched chain amino
acids (BCAA) that accumulate in body tissues due to a presumed genetic
deficiency of a specific enzyme.Κ There
had been some confusion about an unexplained increase in an unrelated amino
acid, methionine.Κ By refined chemical
analysis of specimens from affected patients, this proved to be another amino
acid, alloisoleucine, that is unique to MSUD.Κ
(Drs. Norton and S. Snyderman)
Initial
attempts to treat MSUD took place in London by Drs. Charles Dent and R. Westall
in the early 60s.Κ I had the great
pleasure of a sabbatical research study in 1969 with Dr. Dent and colleagues
(Dr. D.P. Brenton).Κ Previous "visitors" from around the world
in "Charlie's" lab included Drs. C.
Scriver and M. Efron.Κ His treatment
plan with further refinements of the special formula (Drs. S. Snyderman, D.
Lonsdale) was accepted.Κ Removal of the
BCAA from milk and foods was impossible, but mixtures of amino acids without
the BCAA was successful.
Coincidentally,
about the same time, another little baby boy was born at the other end of the
country in Oregon in March of 1965 who also became sick in early infancy.Κ When the family moved to Indiana, he came to
Ann Arbor in 1967 to continue treatment begun in Oregon.Κ Fortunately, he had been tested for MSUD by
a new Guthrie test invented by Robert Guthrie, another science superstar in
those early years of interest in metabolic diseases.Κ He proposed Newborn Screening (NBS) for all babies, originally
PKU and then MSUD.Κ This began the era
of NBS that has now been extended to all the United States and many countries
around the world, especially for PKU, MSUD, Congenital Hypothyroidism (CH), and
several other rare disorders.Κ Yet in
1993, only 24 states have added MSUD to routine newborn screening panels.
These
two babies were my first patients with MSUD.Κ
There were curious similarities in their lives and in the lives of the
families.Κ Both mothers subsequently had
other pregnancies resulting in the birth of girls with MSUD.Κ The mother of one had an amniocentesis in
1969 with cells sent to New York for special studies to determine whether the
fetus was affected.Κ Unfortunately the
cells died during incubation, preventing the completion of tests to establish
the diagnosis.Κ That baby did have MSUD,
which was established within hours of birth.Κ
Had the cells survived, this would probably have been the first inutero
diagnosis of MSUD.Κ Both were diagnosed
by biochemical assay of newborn blood specimens in the first few hours of life
in my laboratory.Κ This allowed a
special BCAA-free diet to be started extremely early in the life of these
infant girls.Κ They are now healthy,
young adults who continue to use the special diet and monitor blood BCAA.
Back
in 1966, the blood tests on this first MSUD baby indicated he had MSUD!Κ We concocted a formula of amino acids,
vitamins and minerals a little different from Dr. Selma Snyderman's.Κ It wasΚ
only several years later commercial producers of infant formulas began
to provide such products for MSUD.Κ The
special formulas for infant PKU were still in trials at this time.Κ Our clinic began to purchase large
quantities of amino acids, formulated to our specifications, which we provided
other clinics as well.Κ This kept the
costs down for families because this was not established treatment according to
health providers.Κ Many state public
health departments should be acknowledged for stepping into the breech to
assure formulas and services were available.Κ
This has been a struggle for all of us interested in treating infants
affected with these rare disorders often discovered at birth by NBS.Κ It is remarkable to me that while the cost
of special formulas seemed quite great, health insurance providers have
gradually acquiesced in the approval of other much more expensive child health
costs (i.e., neonatal ICUs, organ transplant, etc.), but only to a limited
degree for these remarkably beneficial treatment and cost-effective diets in
MSUD and other similar disorders!
Nationally
and internationally "science clubs" were formed, devoted to
the biology of the new group of metabolic diseases designated Inborn Errors of
Metabolism.Κ The Society of Inherited
Metabolic Diseases was organized in San Francisco in 1972.Κ The first meeting of the Child Neurology
Society was held in Ann Arbor in 1972.Κ
Parents of children with all types of neuro-metabolic disorders formed a
"parent club" (Association of
Neuro-metabolic Disorders) to advocate for their children.Κ Contacts with other scientists around the
world in the exchange of information about these then rare disorders helped us
all to benefit the patients under our care.Κ
Babies and children were increasingly being recognized with MSUD.Κ Parents also were advocates and organized
families from around the world (Mr. & Mrs. Brubacher) to assure the
provision of information and services for all known MSUD families.Κ Physicians became aware that MSUD is among
the many causes of neonatal coma.Κ There
are now several MSUD variants also.Κ The
knowledge of the enzyme defect, the genetics, and the neurology of this acute
devastating disease has gradually been established (Drs. D. Danner, L. Elsas
& C. Scriver).Κ During acute bouts
of metabolic decompensation with ataxia or coma, Total Parental Nutrition (TPN)
is a great advance, avoiding the need for dialysis (Drs. G. Gaull & H.
Berry).
In
1966 this first MSUD infant spent 8 months in the clinical research unit.Κ Nutrition was a serious problem, with skin
breakdown and failure to thrive apparently related to the malnutrition of a
special formula lacking essential ingredients.Κ
The health of these first two boys was fragile and the intake of special
formula a constant problem [for the one boy].Κ
Intermittent bouts of acute illness intervened and occasionally required
hospitalization [for the one boy, the other remained very healthy].Κ Fortunately, both these children had the devoted
parents required for successful long term management.Κ Frequent blood analyses required trips to the hospital for arm
vein collections.Κ Unfortunately, both
boys died during metabolic crises near the end of the first decade of life.
Now
newborn infants with MSUD are generally managed on an outpatient basis.Κ Families simply send in a "Guthrie card" with a few drops of
blood for the quantitative analyses of BCAA.Κ
Parents check the urine at home using DNPH.Κ In clinical metabolic follow-up, Magnetic Resonance Imaging (MRI)
is now available to better understand brain changes related to MSUD
management.Κ Recent MRI reports
suggestΚ these special dietary treatments
do have an effect on brain development.
Dietary
management still poses some problems; the composition of essential ingredients
is not consistent in all formulas.Κ
Exact blood titration of individual amino acids during dietary
modifications requires an efficient system of blood collection and
analysis.Κ Acute metabolic and neurologic
episodes continue to be reported.Κ
Occasionally theΚ sudden death of
a seemingly healthy infant or child with MSUD occurs without explanation.Κ The addition of thiamine has had variable
success in clinical management. The neurological outcome appears to be very
good, especially when the diagnosis is established early in life.Κ However, there are still international
reports regarding MSUD suggesting families and children have limited access to
necessary medical care.
Those early days, even with the limited successes we were able to achieve, were very gratifying.Κ I expect the outstanding, ongoing research in metabolism, neurology and genetics will change the care for these infants and children in the next few years.Κ The prevention of mental retardation and brain damage from metabolic disorders is so much more effective now as a result of many scientific contributors.Κ The devotion and support of parents has been essential to the success achieved to date in caring for children with metabolic disorders.Κ (Thanks, Moms and Dads.)
—Richard J. Allen, M.D., Neurologist, University of Michigan, Ann Arbor, Michigan
MSUD Reunion
We
want to thank all who took time out of your busy schedules to come to the 1993
MSUD Reunion at the Grand Canyon of Pennsylvania.Κ We were anticipating and working toward the picnic for so
long.Κ Now suddenly, it is history.
We
really enjoyed the day.ΚΚ We found it
impossible to do all the visiting we wanted to do.
We
give special credit to our own families for taking a big part of the workload.Κ
We were eager to introduce them to our "MSUD family," and they were glad for
the opportunity to be included.
The
Lord blessed us with a beautiful day.Κ
The morning coolness in the shade soon turned to a comfortable
temperature.Κ It was interesting to see
the group of people increasing.Κ It wasn't long till you saw
clusters here and there busily visiting.Κ
The group totaled approximately 200 people, twenty‑two MSUD
families with twenty‑six MSUD children.Κ
There
were three out‑of‑state families, the Brubachers from Indiana,
Walter Newswangers from New York, and the Silvas, who came the farthest, from
Toronto, Canada. We thought it was a good turn‑out, but we would have
been happy to see more of those that couldn't come.
The
biggest hurdle for the meal was the discovery that the electricity supply was
not adequate for the demand.Κ A few
roasters needed to be taken back to a near‑by home.Κ A special thanks for all the food that was
brought along.Κ A woman's common worry about
enough food was groundless.
The
children spent a lot of time on the playground.Κ After dinner, they tackled the challenge of "fishing" for a surprise package.
The
majority of the group hiked the one mile trail to the bottom of the canyon.Κ After resting beside Pine Creek (some weren't satisfied till they
fell in), we were ready for the climb to the top again.
We
attempted to take a picture with all the MSUD children.Κ It was quite a challenge.Κ A few were sleeping and a few weren't there at the
time.Κ A morning picture might have been
more successful.
Most
everyone stayed for an early supper before heading home.Κ A few families were camping.
We
were sorry Dr. Morton and his family couldn't come.Κ
But we're grateful for his
dedication to his patients.Κ That was
the reason for his absence.
We
had the added bonus of doing some visiting the evening before the picnic.Κ Wayne and Joyce Brubacher spent the night at
our house.Κ This was our first meeting
in person.Κ Also, Saul and Lucy Silva
with their son Mark, came from their motel to enjoy Friday supper with us.Κ Rebecca Huyard (Dr. Morton's office manager) spent
from Saturday evening until Sunday afternoon with us.Κ We enjoyed her stay and appreciated her helping hands.
Thanks for the contribution of everyone.Κ Our efforts were rewarded. ΚΚΚΚΚΚΚΚΚΚΚΚΚΚΚΚΚΚΚΚΚΚΚΚ
Κ—John & Verna Mae Martin
An Enriching Day—A Time of Sharing
Wayne
and I attended the PA picnic in June.Κ
We thoroughly enjoyed ourselves at the lovely park with a wonderful day
of visiting with the MSUD families.Κ
John & Verna Mae did an excellent job of organizing and providing
the picnic.
The
huge, delicious lunch included a large selection of low protein foods.Κ (One 15 yr. old filled his pockets with low
protein bars to be sure he would have some for his trip home.)Κ In the afternoon we mothers kept "sampling" the low protein
pretzels made by one of the Mennonite girls.Κ
A daughter of Ivan and Katie Fox worked in a pretzel factory and wanted
to make a similar pretzel for her sister, Ruth.Κ These are the hard, Pennsylvania Dutch type pretzels.Κ (Recipe in Recipe section.) The
adults probably ate most of them.Κ They
were as good as any pretzel I've ever eaten.Κ
Unfortunately, some children with MSUD are so very choosy, they wouldn't try them!
I
took a few pretzels home for Shayla and she loved them.Κ (Shayla could not go with us as it was the
same day as the wedding of her good friend Rachel, and she had part in the
wedding.Κ (Rachel helped Shayla with the
bread demonstration at the last Symposium.)
A
highlight for me was a conversation after lunch with several mothers of
teenagers and adults with MSUD.Κ Various
degrees of learning problems and the accompanying social challenges are common
in many older children with MSUD. ΚWe
found a sympathetic audience as we voiced our experiences and
frustrations.Κ
I
certainly don't want to be
discouraging to any families.Κ Not all
persons with MSUD have these problems and the younger ones have the advantage
of early diagnosis, new formulas and improved treatments.Κ However, for us facing these challenges,
sharing is informative and consoling.
We
discussed issues such as how does one handle inappropriate behavior when
reasoning and explaining seem to fall on deaf ears, or should I say,
uncomprehending minds.ΚΚ For instance,
how do you explain to adolescents why they are avoided at times by their peers,
and being bold and demanding is not the solution?
It
is hard for these children and young adults to develop close friendships,
because they are very manipulative and possessive of persons showing them much
attention.Κ So parents areΚ caught between a rock and a hard place,
trying to protect children from the realities and cruelties of the world
outside the family circle (and sometimes withinΚ families).Κ Yet we also
feel the need to protect others from our own manipulative, overbearing
child.Κ We find ourselves working two
sides, thus feeling we are either doing an injustice to others or to our
child.Κ Each child is different and
there are no easy solutions.
The
fight for independence can be a real battle for any adolescent.Κ For the youth with MSUD, the diet is one
potential battleground.Κ That can be
very scary.Κ The mother, especially, has
a great deal of control over the child from infancy on.Κ She is responsible for strictly controlling
the diet and carefully monitoring the child for signs of illness and elevated
levels.Κ As one mother told me, the
closer we are in our relationship with our child the more forceful may be the
separation when the child seeks independence.
At
our lively sharing session, some mothers frequently responded, "I know just what you are
talking about."Κ This sharing in groups and on a one‑to‑one
basis is what these picnics and various gatherings are all about.Κ We encourage parents in other areas to
organize informal gatherings.Κ
Friendships take time to develop.Κ
Call or write letters to other families in our organization when it is
not possible to meet personally.
Wayne
and I have a concern for parents who feel they are alone in their trials.Κ Each stage of child development has its
challenges.Κ We are especially concerned
about those who suddenly withdraw from contacting other families in the
organization during their child's adolescent years.Κ You
do not need to be alone during trying times.
Parents,
we encourage you to share your experiences in the Newsletter.Κ Just inform me if you do not want your name
printed.Κ We do not want to embarrass
our children.
To
the adolescents struggling with "growing pains," we welcome your stories.Κ Maybe you find your family very helpful and
would like to express your appreciation for their love, support and help.Κ Share your feelings about having this rare
disease.Κ Is it just a natural, accepted
part of your life or do you at times resent having to drink a special formula
and restrict the foods you eat?Κ How do
you cope with peer pressure?Κ What
advice do you have for others?Κ How can
others best help you?
Don't be concerned about how properly your letter is written.Κ Please take time to write, or record what you have to say on a tape.Κ Send it to me, the editor. I will type it for you..ΚΚΚΚΚΚΚΚΚΚΚΚΚΚΚΚΚΚΚΚΚΚΚΚΚΚΚΚΚΚΚΚΚΚΚΚΚΚΚΚΚΚΚΚΚΚΚΚΚΚΚΚΚΚΚΚΚΚΚΚΚΚΚΚΚΚΚΚΚΚΚΚΚΚΚΚΚΚΚΚΚΚΚΚΚΚΚΚΚΚΚΚΚΚΚΚΚΚΚΚΚΚΚΚ
—Joyce Brubacher
Comments About the Picnic
It was good for me to be with other moms to discuss
our children's social behaviors.Κ I don't feel so alone.
—A Mother
I got to sit at the right table and I ate 5 whoopie pies!! —Marlene Zimmerman (MSUD)ΚΚΚΚΚΚΚΚΚΚΚΚΚΚΚΚΚΚΚΚ
The highlight for me was the hike to the bottom
of the canyon with other parents, discussing our children's problems and progress.Κ
Sharing with other parents is always special.Κ
A big thanks to John, Verna and the other families for a great job!ΚΚ
—A Parent
We really enjoyed the picnic, especially being with the other MSUD parents.Κ Also enjoyed the hike to the canyon. — Annie Hoover
ΚΚΚΚΚΚΚΚΚΚΚΚΚΚΚΚΚΚΚΚΚΚΚΚΚΚΚΚΚΚΚΚΚΚΚΚΚΚΚΚΚΚΚΚΚΚΚΚΚΚΚΚΚΚΚΚΚΚΚΚΚΚΚΚΚΚΚΚΚΚΚΚΚΚΚΚΚΚΚΚΚΚΚΚΚΚΚΚΚΚΚΚΚΚΚΚΚΚΚΚΚΚΚΚΚΚΚΚΚΚΚΚΚΚΚΚΚΚΚΚΚΚΚΚΚΚΚΚΚΚΚΚΚΚΚΚΚΚΚΚΚΚΚΚΚΚΚΚΚΚΚΚΚΚΚΚΚΚΚΚΚΚΚΚΚΚΚΚΚΚΚΚΚΚ
We really enjoyed it; was a nice place to have
the picnic.Κ The food selection was
good.Κ Good turnout!Κ John and Verna and their families did a wonderful
job! —Brenda Wenger
I had a lot of fun at the picnic.Κ We should do it again soon.Κ —Idann Hoover (MSUD)
I enjoyed the hike down to the canyon but not up!ΚΚ —A Sibling
We didn't know a lot of people, but we sure look forward
to getting to know you better.Κ We
enjoyed the picnic and so did the children.Κ
We liked hearing the experiences of others; each one is different. —Kevin & Dawn Hahn
Another
conversation at the picnic revealed an issue that I don't remember seeing addressed
before.Κ After her child with MSUD was
born, a mother found a problem developing with her best friend.Κ When this mother spent time sharing with other
parents of children with MSUD, her friend felt neglected.Κ Others in our relationships also have to
make adjustments and learn how to cope with this new development in our lives.
Since
the picnic, I read a related article in the Vol.4, No.2 issue of the RTMDC
News, a newsletter from England.Κ I
have briefly summarized the article, "Breaking the news to family and friends: Some
ideas to help patients," by Helen McConachie a lecturer in Psychology at the
Institute of Child Health, Meckleenburgh Square, London.
There
is information available on how to break the news of a child's disease and/or disability to
parents, but little is written on how to break the news to family and
friends.Κ Helen McConachie has drawn
from various sources to offer suggestions and observations about breaking the
news of a disability.Κ These aptly apply
to chronic diseases as well as disabilities.Κ
Following is a summary of the article.
Many
elements can make sharing the diagnosis difficult.Κ Parents own feelings will be very complex, and it is difficult to
talk when you do not know clearly what you feel.Κ Rejection may well be a part of their mixture of feelings.Κ Parents may have been given, or may have
taken in, very incomplete information about what is actually wrong with the
child and what the future is likely to hold.ΚΚΚ
In one instance, parents were not able to contact a related association
until they had help explaining the baby's diagnosis to an older sibling.ΚΚ
Perhaps
the hardest element of all for parents is knowing that their family and friends
will experience feelings similar to their own; and since they can only just
deal with their own feelings, they have no resources left to help others.Κ Relatives and friends are frequently totally
at a loss as to what to say, and their remarks can often seem awkward or
unsympathetic.
Strategies
to use:
! Be clear.Κ If parents have communicated clearly and
concisely with the professionals involved, and have written information to
refer to, the task is made easier.
! Take a positive
approach.Κ Professionals should
break the news in a way that allows for hope.Κ
Parents can then project a more positive approach to others.
! Discuss what to say.Κ Professionals can help parents plan what to
say and the appropriate level of discussion.
! Involve other
parents.Κ Other parents, especially
with a similar child a little older, can help find the best words to explain
the disability or disease.Κ They can
give emotional support when the family feels pressured by others to put on a "coping" face in public, or when
close family members are so preoccupied with their own feelings they are less
able to listen."
! Offer support.Κ Professionals should be ready to offer a
listening ear and help close family members keep from retreating into
loneliness.Κ Since parents cannot be
expected, at an early stage, to provide much support for others in their
families, setting up groups to meet others in similar situations can be of
great help.
Conclusions:
When
parents are told of a child's disability (or disease), they will need a network of
supports.Κ The success of the network
depends somewhat on how parents break the news to their family and friends and
how they cope with the consequent reactions.Κ
Grandparents, in particular, can be a source of strength or
anxiety.Κ Professional help should
extend to enabling the whole family to function effectively and build up a
solid network of social support in the community.
Low Protein Pretzels
These
pretzels were a big hit at the PA picnic and the recipe was requested by
several persons.Κ Very good!
| 5
oz*Κ DP low Pro Baking Mix 5 oz* wheat starch 1-1/2 tsp. yeast (Red Star)ΚΚ |
1/8 tsp. Metamucil |
ΚΚΚΚΚΚΚΚΚΚΚ
ΚΚΚΚΚΚΚΚΚΚΚΚΚΚΚΚΚΚΚΚΚΚΚΚΚΚΚΚΚΚΚΚΚΚΚΚΚΚΚΚΚΚΚΚΚΚ
Let
rise for 12 hrs or until double in
size.Κ Then put into boiling water
containing 2 tsp. soda for each cup of water.Κ
Allow to soak for 10 seconds or until they rise to the top.Κ Put on salted baking sheets and sprinkle a
little salt over the top of pretzels.Κ
(Use coarse pretzel salt.)Κ Bake
at 500E for 12 to 15 min. or
until golden brown.Κ Dry at 250E with oven door propped slightly open for
about 2 hours or until nice and crisp.Κ
Can be eaten right from the oven as soft pretzels.Κ Makes 10 pretzels or sticks.Κ Recipe may be doubled.
*5 oz equals 141.74 gm.
| Leucine Total recipe: ΚΚΚΚ 52.0 mg Per pretzel:Κ ΚΚΚΚΚΚΚΚ 5.2 mg |
ProteinΚ 1.1 mg ΚΚΚ 0.1 mgΚ |
Calories 1110 Κ 111 |
ΚΚΚΚΚΚΚΚΚΚΚΚΚΚΚΚΚ
ΚΚΚΚΚΚΚΚΚΚΚΚΚΚΚΚΚΚΚΚΚΚΚΚΚΚ
ΚΚΚΚΚΚΚΚΚΚΚΚΚΚΚΚΚΚΚΚΚΚΚΚΚΚΚΚΚ
Easy Macaroni and Cheese
Shayla Brubacher altered a
favorite family recipe so that she could have a similar dish.Κ The family recipe is given first and then
the adapted low protein recipe.
(Regular Family Recipe)
| 3 T butter 2-1/2 c uncooked macaroni 1 tsp. seasoning saltΚ |
3 tsp. pepper 1/2 lb. Velveeta* Cheese 1 qt. milk |
ΚΚΚΚΚΚΚ
ΚΚΚΚΚΚΚΚΚΚΚΚΚΚΚΚ
Melt butter in a 2-1/2 qt. baking dish.Κ Pour macaroni into the baking dish and stir
until coated with butter.Κ Slice cheese
and cut each slice in fourths.Κ Add
salt, pepper, cheese and cold milk to the macaroni.Κ Bake uncovered at 325E
for 12 hours or in the microwave
for 10 min. on high, 10 min. on med. and 10 min. on low.Κ Do not stir while baking; this is golden brown
and creamy when finished.Κ Other seasonings
can be added such as parsley or onion salt.
(Low Pro Recipe)
| 2 T butter (margarine) 1-1/2 c low pro macaroni 2 tsp. seasoning salt Dash of pepper |
4 gm Velveeta* Cheese 3/4 c water 3/4 c non-dairy creamer |
ΚΚΚΚΚΚΚΚΚΚΚΚΚ
ΚΚΚΚΚΚΚΚΚΚΚ
ΚΚΚΚΚΚΚΚΚΚΚΚ
Follow instructions for
family recipe, using a 12 qt. casserole. Cut the
cheese into very small pieces and be sure they are distributed evenly
throughout the dish.Κ Bake 1 hour in the
oven at 325 ‘or in the microwave for
5 min. on high, 5 min. on med. and 5 min. on low.
We use the Wel-plan macaroni but other
brands should be OK.Κ If you use
margarine instead of butter, subtract .2 gm of protein.Κ Reduce the amount of cheese to 10 gm.
andΚ subtract another .7 gm protein.
*Velveeta is a processed
cheese spread
| Leucine Whole recipe:ΚΚ 360 mg 1/2 recipeΚΚΚΚΚΚΚΚΚΚ 180 mg |
Protein 3.9 gm Κ 1.9 gm |
Calories 723 362 |
Κ ΚΚΚΚΚΚΚ
ΚΚΚΚΚΚΚΚΚΚΚΚΚ
ΚΚΚΚΚΚΚΚΚΚΚΚ ΚΚΚΚΚΚΚΚΚΚΚΚΚΚΚΚΚΚΚ
Lo*Pro Milk
Substitute
Lo*Pro Milk Substitute,
an imitation milk formerly called Alterna and distributed by Ross Laboratories,
is now available from Med-Diet Laboratories, Plymouth, Minnesota.Κ This product contains 71% less protein than
2% lowfat milk, and is for use by people whose diets are restricted in protein,
phosphorus, and/or potassium,Κ Although
this product is lower in protein than 2% lowfat cow's milk, it is not intended
to take the place of medical foods that are designed for use by patients with
disorders of amino acid or nitrogen metabolism.
100 mL of Lo*Pro supplies:Κ
1 gm protein, 96 mg leucine, 51 mg isoleucine, 57 mg valine, and 37
calories
This information was
taken from the Vol. 6, No. 3, '93 issue of the Metabolic Currents published by Ross
Products Division.Κ For more information
or to place an order for Lo*Pro Milk Substitute call Med-Diet at 1-800-Med-Diet
(800-633-5550).
Leucine in Equal?
The packages
of Equal (sugar substitute sweetener with Nutra-sweet) basically contain
phenylalanine, an essential amino acid like leucine, isoleucine, and
valine.Κ Equal tablets,
contain slightly different ingredients and include leucine.Κ However, the amount is insignificant, 2.7 mg
or .0027 gm per tablet, unless ingested in large amounts.Κ This information was received over the phone
from the company manufacturing Equal.
Ideas from
other parents
! Maria Aguilar uses a
small amount of peanut butter mixed with butter and honey for lunch
sandwiches.Κ She uses Mocha Mix to
flavor the formula.
! Debra Suyama has unique
ideas to make "milk shakes" with the formula.Κ She uses Mocha Mix with some Coffee Rich and
vanilla, Quik Strawberry Syrup, or she blends some frozen fruit and adds
powered formula to make a thick, icy shake.Κ
Although her son is a variant diagnosed at 2 years of age, she had no
problem getting him to take formula, possibly due to her creative ways of
serving it.
Editors note: Be sure the child
drinks plenty of water if the formula is concentrated.
! Use the Chewy Chocolate
Chip Cookie recipe submitted by Marty Zimmerman in the low protein section of
the We Love Cooking cookbook, but substitute strawberry pudding and omit
chocolate chips.Κ Put 2 a marshmallow on each
cookie just before done.
! The Sabai's give Omar 250 mg
carnitine daily and twice that much when showing ketones.
! The Alvernazes really
like the new Ketonex-2 formula (medical food) for their son.Κ He isn't sick nearly as often.
! Kaye Larson would like
to know if mouth sores could be caused by low lysine?Κ A teacher uses lysine to cure her own mouth sores.Κ Do other persons with MSUD have a problem
with mouth sores?
New Cookbooks
! Virginia Schuett did it
again!Κ She is the author of several
low protein cookbooks and the latest is titled Low Protein Bread Machine
Baking for PKU.Κ It is a spiral
bound, 8 x 8 inch, 100 page book with 92 recipes.ΚΚ
Chapter titles are "Everyday Breads," "Specialty Breads," "Handshaped Breads," and "Crusts and Spreads."Κ (The spreads include "Steve's Peanut Butter"—a look alike, taste alike,
without real peanut butter and only .1 gm protein per tablespoon.)Κ Bread recipes have individual versions geared
for different bread machines and baking mixes.Κ It has many bread making hints gathered from Virginia's years of experience with
low protein recipes. Order from:
Dietary Specialties,
Inc.
P.O. Box 227
Rochester, NY 14601
1-800-544-0099
ΚΚΚΚΚΚ THE
CLINIC FOR SPECIAL CHILDREN
Dr. Holmes Morton is the director
and physician at a unique, nonprofit Clinic in Pennsylvania.Κ The Clinic for Special Children now cares
for more than 30 children with classic MSUD.Κ
Although the Clinic was founded as a local medical service to the
children in Lancaster County, it is increasingly involved in the care of
children in other states.Κ Dr. Morton
has consented to be a professional contact person for our organization.Κ I am confident he will be an asset to us.
The families who know Dr. Morton
personally, are very pleased to see him honored with the Albert Schweitzer
award (see following article, "Dr. Morton Recognized With the Albert Schweitzer
Award").Κ He is a very caring doctor, totally dedicated to his patients and
their families, giving of himself far above the call of duty.Κ The families in turn have supported his work
by donating land and their building skills to construct the Clinic.Κ (See related articles in the April 1991
issue of the MSUD Newsletter.)
Upon receiving the award, Dr.
Morton typically shares the recognition with others.Κ In one newspaper article he was quoted as saying,Κ "In a way, it's not so much a recognition of my
individual work but the collective work of the people at the Clinic, and that
includes the parents of the children I work with.Κ It's a recognition of them, too."
The following accounts describe
the benefit Auction and the Clinic for which it was held.Κ The account of the Clinic is taken from an
note of thanks written by the Clinic staff to a Mennonite church in PA.
Attending the
Auction
On Sept. 18th Wayne and
I attended the 3rd annual benefit Auction held in Leola, PA to support the
Clinic For Special Children.Κ The Clinic
does not receive any money from the state or federal government, so this event
is an important fund raiser.
We thoroughly enjoyed
meeting the many PA families of children with MSUD and sharing the excitement
of the huge crowd (over 5,000), 4 to 5 auction rings going all day, and the
short speeches by Dr. Morton and Frank Allen, the former Wall Street Journal
writer.Κ (Frank Allen's articles on glutaric
aciduria helped raise money to get the Clinic started.)
It was impressive to see
the huge amount of donated craft items, 82 quilts and bakery carts stacked full
of hundreds of tempting home-baked goodies.Κ
Smells from the concession stands and the barbecue pit outside
stimulated our appetites.Κ We could choose
from a large variety of home style Pennsylvania Dutch cooking such as soft
pretzels, chicken corn soup, shoofly pie and meadow tea.
Many items sold at very
reasonable prices, except the item you had your heart set on, of course.Κ "Excavator Wayne" decided he needed the special
handmade wooden dump truck!Κ The highest
priced item this year was a dog kennel for $1 000, selling for a little less
than last year's dog kennel.Κ Last year a bedroom suite sold for
$1100.Κ The highest price paid for a
quilt this year was $700 compared with last year's $800.Κ
Other higher priced items included a whirlpool tub, roll-top desk,
utility shed and swing set.Κ This is the
third year for the Auction.Κ The first
year the event raised $78,000, the second year $95,000, and this year $105,000.
If you have the opportunity to be in PA next year (about the 3rd week in August), don't