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
