MNT for Genetic Metabolic Disorders Flashcards
Genetic metabolic disorders are also known as ___ ___ ___ ____
Inborn errors of metabolism
Genetic metabolic disorders are inherited traits that result in the absence or reduced activity of a specific ___ or ___
Enzyme or cofactor
Most genetic metabolic disorders are associated with ____ clinical illness
Severe
Genetic metabolic disorders usually appear soon after ____
Birth
__ ___ ___ is the primary treatment for genetic metabolic disorders (required expertise in the specific disorder)
Medical nutrition therapy
Role of the RD:
-Nutrition assessment
-Developing a specific diet plan to eliminate or minimize the nutrients of concerns and still meet nutritional needs for normal growth and development
-Education: foods to avoid, menu planning, label reading, use of specialized formulas
-Monitoring
Phenylketonuria (PKU) is an ___ ___ disorder
Autosomal recessive
PKU affects 1 in ____ newborns in the U.S
15,000
With PKU, phenylalanine is not metabolized to ____ due to a deficiency or inactivity of phenylalanine hydroxylase
Tyrosine
This causes ____ to accumulate in the blood and is toxic to brain tissue
Phenylalanine
Without treatment, PKU causes ___ ___ ___
Severe intellectual disability
To diagnose PKU, blood levels of phenylalanine need to be >__-__ mg/dL consistently
6-10
In addition to phenylalanine levels, to diagnose PKU someone also needs to have Tyrosine levels <___ mg/dL
3
The goal with PKU is ____ treatment after diagnosis to prevent intellectual deterioration
Immediate
Someone with PKU should try to maintain blood phenylalanine levels in the range of ___-__ mg/dL
2-6
To maintain lower levels of phenylalanine, someone with PKU needs to restrict ___ intake, but also needs to prevent tissue catabolism
Phenylalanine
Someone with PKU needs adequate supplementation of ____
Tryosine
MNT for PKU includes restricting phenylalanine to the ___ amount required
Minimum
Dietary sources of phenylalanine are ____ sources
Protein
Most protein must be provided by a special formula that includes all ___ ___ (including tyrosine), except for phenylalanine
Amino acids
The special formula will provide ___ of protein needs and ___% of energy needs for an infant or toddler
90; 80
For infants, what brands of phenylalanine-free formula are options?
-Phenyl-free 1 (Mead Johnson)
-Phenex-1 (Abbott Nutrition)
In addition to the specialized formula, the infant should have a small specific amount of ___ ___ or regular infant formula to provide sufficiently phenylalanine to meet needs for normal growth and to provide remaining protein needs
Breast milk
Formula should be consumed in ___-___ equal portions throughout the daay
6-8
At around ___ months of age, begin introducing age-appropriate low-protein baby foods
6
What are phenylalanine-free formulas for toddlers?
-Phenyl-free 2
-Phenex-2
Children must always follow a ___ meal plan and calculate total amount of phenylalanine consumed
Strict
Decreased IQ and ___ ___ have been reported in children who have discontinued the diet
Learning disabilities
Energy needs for children with PKU do not ____ from healthy children
Differ
Children with PKU should avoid indulging in ___
Sweets
A PKU diet excludes…
-Meat
-Fish
-Poultry
-Eggs
-Legumes
-Nuts
-Seeds
-Dairy (minimal amounts of milk are sometimes permitted)
-Anything with Aspartame
PKU diet should include…
-Fruits
-Vegetables
-Potatoes
-Grains
-Low protein pastas, bread, and baked goods
Adolescents and adults should use age-appropriate formula as well as ___-___ foods
Low-protein
Current recommendation for adolescents and adults is that ___ ____ diet should be continued for life to maintain normal cognitive function
Restricted-phenylalanine
Elevated serum phenylalanine levels during pregnancy can endanger the ____
Fetus
The fetus is exposed to twice the normal amount of phenylalanine which results in…
-Increased incidence of cardiac defects
-Restricted growth
-Intellectual disability
It is important to have strict control of maternal phenylalanine levels before ___ and during pregnancy to offer the best chance of a healthy baby
Conception
Phenylalanine levels are difficult to manage secondary to ____ changes and nutritional needs of pregnancy
Physiological
The MNT for maternal PKU is…
-PKU diet before, during, and after pregnancy
-Provide adequate calories (if inadequate, phenylalanine increases)
Maple Syrup Urine Disease causes a disruption in the metabolism of __ __ ___ ___
Branched-chain amino acids
What are three branched-chain amino acids?
-Leucine (especially impacted by MSUD)
-Isoleucine
-Valine
Maple Syrup Urine Disease is due to a deficiency in ___ __ ___ ___
Branched-chain ketoacid decarboxylase
Maple Syrup Urine Disease results in a buildup of BCAA and their alpha-ketoacids, leading to _____
Ketoacidosis
Maple Syrup Urine Disease is an ___ ___ disorder
Autosomal recessive
Maple Syrup Urine Disease occurs in 1 of every _____ births
185,000
Symptoms of Maple Syrup Urine Disease develop by __-__ days of life
4-5
Symptoms of Maple Syrup Urine disease include…
-Poor feeding
-Lathargy
-Vomiting
-Period hypertonia
-Sweet, malty odor from urine and sweat
If untreated, Maple Syrup Urine Disease can cause…
-Acidosis
-Neurologic deterioration
-Seizures
-Coma
-Sometimes death
What are goals for someone with Maple Syrup Urine Disease?
-Maintain acceptable levels of BCAA and alpha-ketoacid value
-Normal growth and development
Acceptable serum leucine levels are between ___-___ mg/dL
2-5
What are specific formulas that are BCAA-free?
-Ketonex 1,2 (Abbott Nutrition)
-BCAD 1,2 (Mead Johnson)
BCAA-free formulas provide about ____% of protein and essential nutrients
75
For infants, provide a small quantity of breast milk or standard infant formula to meet the minimum ____ needs for growth and remaining protein and nutrient needs
BCAA
Children and adults should get age-appropriate specialized formula as well as low-protein foods to meet minimum ____ requirements, energy, and protein needs
Leucine
Classic galactosemia is a disturbance in the conversion of ____ to ____ due to a deficiency of galactose-1-phosphate uridyl transferase
Galactose to glucose
Classic galactosemia results in the accumulation of…
Galactose-1-phosphate
Galactose-1-phosphate is toxic to…
-Central nervous system
-Liver
-Kidneys
-Eyes
Classic galactosemia is an ___ ___ disorder
Autosomal recessive
Classic galactosemia occurs in 1 of every ____ births in the U.S
48,000
Symptoms of classic galactosemia:
-Vomiting
-Diarrhea
-Lethargy
-Poor weight gain
-Poor feeding
-Jaundice
Complications of classic galactosemia:
-Hypoglycemia
-Hepatomegaly and hepatitis
-Cataracts
-Intellectual disability
-More susceptible to infections
-With early treatment, physical and motor development should proceed normally, however intellectual achievement may be depressed
MNT for galactosemia is lifelong ____ restriction
Galactose
Those with galactosemia should strictly avoid ___ and ___ products, and all lactose-containing foods
Milk and dairy
Infants with galactosemia should use a ___-based formula and can not have breast milk
Soy-based
RDs should educate on ___ ___ for both hiding sources of milk and lactose
Label reading
____ supplementation is often needed after infancy in those with galactosemia
Calcium
___ ___ ____ cause an inability to metabolize glycogen to glucose in the liver due to enzyme defects
Glycogen storage disorders
Type Ia glycogen storage diseases cause a deficiency of ____ ____ which converts glucose-6-phosphate to glucose
Glucose-6-phosphatase
Glycogen storage diseases occur in 1 of every _____ births
100,000
Glycogen storage diseases are ___ ___ disorders
Autosomal recessive
Clinical manifestations of glycogen storage disorders:
-Severe hypoglycemia due to decrease glycogenolysis
-Hepatomegaly due to abnormal glycogen accumulation in the liver
-Poor growth
-Lactic academia
-Hypertriglyceridemia, hypercholesterolemia
-Hyperuricemia
Nutrition goals for someone with glycogen storage disease:
-Maintain normal blood glucose levels
-Support normal growth and development
MNT for glycogen storage diseases:
-Provide frequent complex carbohydrates (infants: feed every 2-3 hours, children: every 3-4 hours)
-2/3 kcal during the day, 1/3 at night
-Avoid fasting for more than 5-7 hours
For someone with glycogen storage disease, they should get ___-___% of kcal from carbohydrates (primarily from complex carbs)
60-70
For someone with glycogen storage disease, they should get ___-___% of kcal from protein (emphasizing lean sources)
10-15
For someone with glycogen storage disease, they should get ___-___% of kcal from fat (limit SFA)
25-35
Those with glycogen storage diseases often require ___ ____ ___ ___
Continuous nocturnal tube feeding
___ ___ is sometimes given between meals and at night to maintain blood glucose levels
Uncooked cornstarch
Raw cornstarch is digested more ___, allowing for a more gradual release of glucose
Slowly
___-___ g/kg of cornstarch should be given every 4-6 hours
1.6-2.5
People should not hear cornstarch or mix with ____ beverages because it will allow more rapid digestion
Acidic
You should not use uncooked cornstarch in infants under ___ months, as it can cause gas and diarrhea
6
Those with glycogen storage diseases should also limit…
-Fructose
-Galactose
-Sucrose
-Lactose
Fructose and galactose are metabolized to ____ ____, which later metabolized to lactate, lipids and uric acid
Glucose-6-phosphate
People with glycogen storage diseases should take a MVI with minerals, as well as ___ supplementation
Calcium
If people are consuming uncooked cornstarch, we should recommend an ___ supplement
Iron
