Caroline Mooney

KNH 413
Medical Nutrition Therapy Diet
1. Purpose
a. Nutrition Indicators
The sweet smelling urine, with an odor similar to maple syrup, characterizes
maple syrup urine disease. Symptoms of the condition include poor feeding, vomiting,
dehydration, lethargy, hypotonia, seizures, ketoacidosis, coma, neurological decline, and
more. Nutrition screening is done at birth if MSUD runs in childs family.
b. Criteria to Assign the Diet
The disease is named for the presence of sweet smelling urine. Those who are
affected with the disease have characteristic elevations on plasma amino acids, which do
not have the characteristic odor. Infants with the disease seem healthy at birth, but if left
untreated can suffer severe brain damage and eventually die. The diet must be adhered to
strictly and permanently, however if managed properly you can live a normal life, and not
suffer the neurological damage. Those who have high levels of plasma amino acids
leucine, isoleucine, and valine should be assigned to the diet.
c. Rationale for Diet
Those with MSUD cannot break down leucine, isoleucine, and valine. A diet with
minimal levels of leucine, isoleucine, and valine is required to prevent neurological
damage, however since these amino acids are required for metabolic function they are
needed in the form of amino acid substitutes.

2. Population

a. Overview
Amino acid disorders include conditions affecting the metabolism of a single
amino acid. Those populations that tend to be more homogenous have been found to have
higher rates of certain disorders. Maple Syrup Urine Disease has been detected at an
incidence of 1 in 290,000 births in state screening programs. (Nelms, 2011). Maple Syrup
Urine Disease (MSUD) is an autosomal recessive metabolic disorder that affects
branched-chain amino acids. MSUD can result from mutations in any of the genes that
code for the enzyme subunits. This condition is called this due to the sweet smell that
affects the infants urine, which is a similar smell to maple syrup. Affected individuals are
often identified by elevations on plasma amino acids, which do not have the odor.
Sotolon is the compound that is responsible for the odor of this condition. When infants
have this disease they seem healthy at birth, however if the disease is left untreated it can
lead to severe brain damage and eventually death.
b. Disease Process
Since MSUD is an autosomal recessive disease, each parent has to have a
recessive gene for MSUD, which can then be passed down to the child. If both parents
have the gene there is a 25% chance that the child will be affected, and a 50% chance of
the child being a carrier. When infants have this disease they seem healthy at birth, but
then begin to have symptoms of MSUD when eating protein, like vomiting and fatigue,
and even coma. MSUD can cause retardation, and brain damage if left untreated, which
can ultimately lead to death. It is also important when a child is sick that they pay extra
attention, and follow their diet very strictly.
c. Biochemical and Nutrient Needs
As stated earlier, a diet with minimal levels of leucine, isoleucine, and valine is
required to avoid further damage, but substitutes of these amino acids are needed. A child
with MSUD will be able to have a normal life if they follow all the diet and lifestyle
changes as listed above. It is very important that the child sees a dietician and metabolic
doctor, along with the childs pediatrician. When the child is sick, it is also very important

that they see the doctor immediately, and eat more carbohydrates and drink more fluids. It
is very important that the child follows their diet, or further complications may occur.
3. General Guidelines
a. Nutrition Rx
Treatment is very important for MSUD, and your baby will likely need to have both a
metabolic doctor, and a dietician. Most children will need to have a very low-protein diet
and drink a formula. There are many treatments that are recommended for children with
MSUD; some of the most common treatments are listed below.

Medical Formula: Along with a low-protein diet, a special formula that is a

substitute for milk is given to the child. This formula will give them protein they

need.
Diet low in branched-chain amino acids: This diet should be very low in
branched-chain amino acids. Foods that should be avoided include: milk, regular
formula, meat, fish, cheese, and eggs. Foods that should be limited include:
peanut butter, dried beans, flour, and nuts. Fruits and vegetables sometimes have

small amounts of BCAAs and should be eaten in small amounts.

Supplements: Thiamine supplements often benefit children with MSUD,
specifically those with thiamine-responsive MSUD.
b. Adequacy of Nutrition Rx
If a child follows these specific nutrition guidelines they will be able to have a

normal life. You must be very careful and stick to these strict diet guidelines in order to
be healthy and life normally. Special formulas low in BCAAs will help them get the
protein that they need.
c. Goals

Goals for individuals with MSUD include: gaining weight normally and growing
normally, normal psychomotor development, tolerance to BCAAs based on their age, and
being able to monitor the child successfully.
d. Does it Meet DRI
While fats and carbohydrates will meet the DRI values for the child, protein may
be hard to reach since it should only be consumed in small amounts. Formulas and lowprotein versions of foods should be consumed.
4. Education Material
a. Nutrition Therapy

The babys parents should begin by meeting with the dietician and doctor to

discuss the eating and treatment plan of the child.

After your baby is diagnosed with MSUD, medical treatment should begin
immediately. This treatment should reduce the branched-chain amino acids, and
will include amino acids that are not branched-chain amino acids. Protein will be

needed for your child, as well as glucose infusions.

The infants meal plan should be determined after meeting with the dietician and

should include: a medical formula, vitamins, minerals, and protein (no BCAAs)
No high protein foods should be included in the childs diet for the rest of their

life including: peanut butter, meat, fish dried beans, flour, and nuts.
The child should be tested regularly for amino acids, proteins, BCAA levels, and

thiamine
Foods to avoid: beef, chicken, fish, pork, eggs, dairy, beans, nuts, seeds
b. Ideas for Compliance
Add new foods into the childs diet slowly, and give them foods that they enjoy.

Try to find alternative options to their favorite foods, especially those that contain high
amounts of protein.
5. Sample Menu

a. Foods Recommended

Fruits

Vegetables

Low-protein versions of breads, pastas, cheeses

Formula & supplements (needed)

Foods containing carbohydrates and fats

b. Foods to Avoid

No high protein foods (peanut butter, dried beans, meat, nuts)

Also avoid eggs, dairy, seeds

Cows milk

c. Example of a meal plan

Breakfast: 8 oz. formula, cereal, piece of fruit, juice
Lunch: 8 oz. formula, low-protein bread with vegetables and low-protein cheese, piece of
fruit
Snack: 6 oz. formula, rice cakes
Dinner: 8 oz. formula, low-protein pasta with tomato sauce, house salad with vegetables
and dressing
Snack: 6 oz. formula, smart pop
6. Websites

a. Organizations with Websites

MSUD Family Support Group www.msud-support.org/

National Organization for Rare Disorders www.rarediseases.org
b. Government Websites

National Institutes of Health www.nih.gov/

Maple Syrup Urine Disease Family Support Group healthfinder.gov

7. References
Diagnosis of MSUD. (n.d.). Retrieved March 9, 2015, from
https://www.uic.edu/classes/phar/phar332/Clinical_Cases/aa metab
cases/MSUD/Diagnostics_of_MSUD.html
EER Equations - Nutrition for Healthy Living for Educators. (n.d.). Retrieved March 9, 2015,
from https://sites.google.com/site/nutritionforhealthyliving/pa-value/conversions/eerequations
Ketonex-1. (n.d.). Retrieved March 9, 2015, from
http://abbottnutrition.com/brands/products/ketonex-1
Maple Syrup Urine Disease (MSUD). (n.d.). Retrieved March 9, 2015, from
http://www.healthline.com/health/maple-syrup-urine-disease#RiskFactors4
Maple syrup urine disease. (n.d.). Retrieved March 9, 2015, from
http://ghr.nlm.nih.gov/condition/maple-syrup-urine-disease
Maple syrup urine disease. (n.d.). Retrieved March 9, 2015, from
http://en.wikipedia.org/wiki/Maple_syrup_urine_disease
MILUPA METABOLICS - Products -. (n.d.). Retrieved March 9, 2015, from
http://www.milupa-metabolics.com/produkte.php?sourceId=161&sysId=32
Nelms, M. (2011). Nutrition therapy and pathophysiology (2nd ed.). Belmont, CA:
Wadsworth, Cengage Learning.
NEWBORN SCREENING. (n.d.). Retrieved March 9, 2015, from
http://www.newbornscreening.info/Parents/aminoaciddisorders/MSUD.html

What is normal? (n.d.). Retrieved March 9, 2015, from

http://www.bloodpressureuk.org/BloodPressureandyou/Thebasics/Whatisnormal