Metabolic Diseases Flashcards
genetic metabolic disorders are inherited traits that result in ____________________________
absence or reduced activity of a specific enzyme or cofactor
most genetic metabolic disorders are associated with severe clinical illness
usually appear ___________
soon after birth
Role of RDN
- MNT is often the__________
- Requires ________________
- Nutrition assessment
- Assessing food records/diaries
- Developing a specific diet plan to eliminate or minimize the nutrient(s) of concern and yet meet nutritional needs for normal growth & development
- Education: foods to avoid, menu planning, label reading, use of specialized formulas
- Monitoring
primary treatment
expertise in the specific disorder
Phenylketonuria (PKU)
Autosomal ________ disorder
1 in 15,000 newborns in the U.S.
_______ is not metabolized to _________ due to a deficiency or inactivity of _____________
_________ accumulates in the blood and is toxic to ______
Without treatment=> _____________
recessive
Phenylalanine
tyrosine
phenylalanine hydroxylase
Phenylalanine
brain tissue
severe intellectual disability
Diagnostic Criteria
All U.S. states screen newborns for PKU
Blood levels phenylalanine _____ mg/dL consistently
Tyrosine levels ____ mg/dL
> 6-10
<3
Immediate treatment after diagnosis to prevent intellectual deterioration
Maintain blood phenylalanine (Phe) levels in the range of ______ mg/dL
- Restrict Phe intake
- Prevent _____________
Provide adequate _______
Promote normal growth & development
2-6
tissue catabolism
tyrosine
MNT for PKU involves ___________ diet to ______
Dietary sources of Phe=> _________
Provided by a special formula that provides all _______ except _____
Special formula will provide ____ of protein needs and _____ of energy needs for an infant or toddler
Restricted phenylalanine
the minimum amount required
protein
AA (including tyrosine) except Phe
90%
80%
Phenylalanine-free formula=>_______ & _____
In addition to the specialized formula, the infant should have a small specific amount of breast milk or regular infant formula to provide:
- Sufficient Phe to meet needs for normal growth
- Remaining protein needs
- Formula should be consumed in _____ equal portions throughout the day
Phenyl-free 1 (Mead Johnson)
Phenex-1 (Abbott Nutrition)
6-8
At ~ _____ of age begin introducing age-appropriate low protein baby foods
6 months
Advance to age-appropriate formula when a toddler
- ______________
-_______________
Phenyl-free 2
Phenex-2
TODDLERS PKU
- Must always follow a strict meal plan and calculate total amount of Phe consumed
- _________ & __________ have been reported in children who have discontinued the diet
- Energy needs do not differ from healthy children
- Avoid food indulgences=> _____
- Involve child in meal planning process
Decreased IQ & learning disabilities
sweets
Exclude: ________
Include low protein foods:
_____, __________, and _________
Can purchase special low protein pastas, bread, baked goods
______ contains Phe
all meat, fish, poultry, eggs, legumes, nuts, seeds, & dairy (minimal amounts of milk permitted)
fruits, vegetables, potatoes, grains
Aspartame
Age-appropriate formula supplemented with ______ foods
Current recommendation=> restricted-Phe diet should be continued for_____ to maintain normal cognitive function
low protein
life
Elevated serum Phe levels during pregnancy endangers the fetus
Fetus is exposed to twice the normal amount of Phe=>increased incidence of ___________, and _____________
Strict control of maternal Phe levels before conception and during pregnancy offer the best chance of a healthy baby
Difficult to manage secondary to physiological changes and nutritional needs of pregnancy
cardiac defects
intellectual disability
PKU diet with formula before, during, after pregnancy
Provide adequate calories
- If calories inadequate=>____________
Phe increases
Maple Syrup Urine Disease (MSUD) includes disruption in th metabolism of branched chan amino acids _____, _______, and _______ due to deficiency of _______________
leucine
isoleucine
valine
branched chain ketoacidecarboxylase
Maple Syrup Urine Disease (MSUD) results in a buildup of ______ leading to _______
Autosomal _______ disorder
tested at birth?
these BCAA and their alpha ketoacidosis
ketoacidosis
recessive
yes
MSUD SYMPTOMS
Develop by_____ days of life
Baby is ________, poor ______, ________, periodic _______,
_________ odor
4-5
Lethargic
feeding
vomiting
hypertonia
Sweet, malty
If MSUD untreated:
__________
Acidosis
Neurologic deterioration
Seizures
Coma
Sometimes death
Treatment goals for MSUD
Serum BCAA and alpha-ketoacid values to acceptable levels
- serum ______ levels should be ____ mg/dl
Normal growth & development
leucine
2-5
MNT for MSUD
Provide special formulas that are BCAA-free:
- examples are _____ and ______
- BCAA-free formulas provide about ____% of protein & essential nutrients
Ketonex 1, 2 (Abbott Nutrition)
BCAD 1, 2 (Mead Johnson)
75%
MSUD MNT
Infants
- provide a small quantity of _______ or standard infant formula to meet the minimum ______ needs for growth and remaining protein and nutrient needs
Children/adults
- Age appropriate ___________
- Low-protein foods to meet minimum ______
requirements, energy, & protein needs
breast milk
BCAA
specialized formula
leucine
Galactosemia is disturbance in the conversion of ______ to
_______ due to a deficiency of ________
Results in=> accumulation __________
=>toxic to _____, ____, _____, and _____
Autosomal ________ disorder
galactose
glucose
galactose-1-phosphate uridyl transferase
galactose-1-phosphate
CNS, liver, kidneys, eyes
recessive
Symptoms of classic galactosemia
Vomiting
Diarrhea
Lethargy
Poor weight gain
Poor feeding
Jaundice
