MNT for Genetic Metabolic Disorders

Question 1

Genetic metabolic disorders are also known as ___ ___ ___ ____

Answer 1

Inborn errors of metabolism

Question 2

Genetic metabolic disorders are inherited traits that result in the absence or reduced activity of a specific ___ or ___

Answer 2

Enzyme or cofactor

Question 3

Most genetic metabolic disorders are associated with ____ clinical illness

Answer 3

Severe

Question 4

Genetic metabolic disorders usually appear soon after ____

Answer 4

Birth

Question 5

__ ___ ___ is the primary treatment for genetic metabolic disorders (required expertise in the specific disorder)

Answer 5

Medical nutrition therapy

Question 6

Role of the RD:

Answer 6

-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

Question 7

Phenylketonuria (PKU) is an ___ ___ disorder

Answer 7

Autosomal recessive

Question 8

PKU affects 1 in ____ newborns in the U.S

Answer 8

15,000

Question 9

With PKU, phenylalanine is not metabolized to ____ due to a deficiency or inactivity of phenylalanine hydroxylase

Answer 9

Tyrosine

Question 10

This causes ____ to accumulate in the blood and is toxic to brain tissue

Answer 10

Phenylalanine

Question 11

Without treatment, PKU causes ___ ___ ___

Answer 11

Severe intellectual disability

Question 12

To diagnose PKU, blood levels of phenylalanine need to be >__-__ mg/dL consistently

Answer 12

6-10

Question 13

In addition to phenylalanine levels, to diagnose PKU someone also needs to have Tyrosine levels <___ mg/dL

Answer 13

3

Question 14

The goal with PKU is ____ treatment after diagnosis to prevent intellectual deterioration

Answer 14

Immediate

Question 15

Someone with PKU should try to maintain blood phenylalanine levels in the range of ___-__ mg/dL

Answer 15

2-6

Question 16

To maintain lower levels of phenylalanine, someone with PKU needs to restrict ___ intake, but also needs to prevent tissue catabolism

Answer 16

Phenylalanine

Question 17

Someone with PKU needs adequate supplementation of ____

Answer 17

Tryosine

Question 18

MNT for PKU includes restricting phenylalanine to the ___ amount required

Answer 18

Minimum

Question 19

Dietary sources of phenylalanine are ____ sources

Answer 19

Protein

Question 20

Most protein must be provided by a special formula that includes all ___ ___ (including tyrosine), except for phenylalanine

Answer 20

Amino acids

Question 21

The special formula will provide ___ of protein needs and ___% of energy needs for an infant or toddler

Answer 21

90; 80

Question 22

For infants, what brands of phenylalanine-free formula are options?

Answer 22

-Phenyl-free 1 (Mead Johnson)
-Phenex-1 (Abbott Nutrition)

Question 23

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

Answer 23

Breast milk

Question 24

Formula should be consumed in ___-___ equal portions throughout the daay

Answer 24

6-8

Question 25

At around ___ months of age, begin introducing age-appropriate low-protein baby foods

Answer 25

6

Question 26

What are phenylalanine-free formulas for toddlers?

Answer 26

-Phenyl-free 2 -Phenex-2

Question 27

Children must always follow a ___ meal plan and calculate total amount of phenylalanine consumed

Answer 27

Strict

Question 28

Decreased IQ and ___ ___ have been reported in children who have discontinued the diet

Answer 28

Learning disabilities

Question 29

Energy needs for children with PKU do not ____ from healthy children

Answer 29

Differ

Question 30

Children with PKU should avoid indulging in ___

Answer 30

Sweets

Question 31

A PKU diet excludes...

Answer 31

-Meat -Fish -Poultry -Eggs -Legumes -Nuts -Seeds -Dairy (minimal amounts of milk are sometimes permitted) -Anything with Aspartame

Question 32

PKU diet should include...

Answer 32

-Fruits -Vegetables -Potatoes -Grains -Low protein pastas, bread, and baked goods

Question 33

Adolescents and adults should use age-appropriate formula as well as ___-___ foods

Answer 33

Low-protein

Question 34

Current recommendation for adolescents and adults is that ___ ____ diet should be continued for life to maintain normal cognitive function

Answer 34

Restricted-phenylalanine

Question 35

Elevated serum phenylalanine levels during pregnancy can endanger the ____

Answer 35

Fetus

Question 36

The fetus is exposed to twice the normal amount of phenylalanine which results in...

Answer 36

-Increased incidence of cardiac defects -Restricted growth -Intellectual disability

Question 37

It is important to have strict control of maternal phenylalanine levels before ___ and during pregnancy to offer the best chance of a healthy baby

Answer 37

Conception

Question 38

Phenylalanine levels are difficult to manage secondary to ____ changes and nutritional needs of pregnancy

Answer 38

Physiological

Question 39

The MNT for maternal PKU is...

Answer 39

-PKU diet before, during, and after pregnancy -Provide adequate calories (if inadequate, phenylalanine increases)

Question 40

Maple Syrup Urine Disease causes a disruption in the metabolism of __ __ ___ ___

Answer 40

Branched-chain amino acids

Question 41

What are three branched-chain amino acids?

Answer 41

-Leucine (especially impacted by MSUD) -Isoleucine -Valine

Question 42

Maple Syrup Urine Disease is due to a deficiency in ___ __ ___ ___

Answer 42

Branched-chain ketoacid decarboxylase

Question 43

Maple Syrup Urine Disease results in a buildup of BCAA and their alpha-ketoacids, leading to _____

Answer 43

Ketoacidosis

Question 44

Maple Syrup Urine Disease is an ___ ___ disorder

Answer 44

Autosomal recessive

Question 45

Maple Syrup Urine Disease occurs in 1 of every _____ births

Answer 45

185,000

Question 46

Symptoms of Maple Syrup Urine Disease develop by __-__ days of life

Answer 46

4-5

Question 47

Symptoms of Maple Syrup Urine disease include...

Answer 47

-Poor feeding -Lathargy -Vomiting -Period hypertonia -Sweet, malty odor from urine and sweat

Question 48

If untreated, Maple Syrup Urine Disease can cause...

Answer 48

-Acidosis -Neurologic deterioration -Seizures -Coma -Sometimes death

Question 49

What are goals for someone with Maple Syrup Urine Disease?

Answer 49

-Maintain acceptable levels of BCAA and alpha-ketoacid value -Normal growth and development

Question 50

Acceptable serum leucine levels are between ___-___ mg/dL

Answer 50

2-5

Question 51

What are specific formulas that are BCAA-free?

Answer 51

-Ketonex 1,2 (Abbott Nutrition) -BCAD 1,2 (Mead Johnson)

Question 52

BCAA-free formulas provide about ____% of protein and essential nutrients

Answer 52

75

Question 53

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

Answer 53

BCAA

Question 54

Children and adults should get age-appropriate specialized formula as well as low-protein foods to meet minimum ____ requirements, energy, and protein needs

Answer 54

Leucine

Question 55

Classic galactosemia is a disturbance in the conversion of ____ to ____ due to a deficiency of galactose-1-phosphate uridyl transferase

Answer 55

Galactose to glucose

Question 56

Classic galactosemia results in the accumulation of...

Answer 56

Galactose-1-phosphate

Question 57

Galactose-1-phosphate is toxic to...

Answer 57

-Central nervous system -Liver -Kidneys -Eyes

Question 58

Classic galactosemia is an ___ ___ disorder

Answer 58

Autosomal recessive

Question 59

Classic galactosemia occurs in 1 of every ____ births in the U.S

Answer 59

48,000

Question 60

Symptoms of classic galactosemia:

Answer 60

-Vomiting -Diarrhea -Lethargy -Poor weight gain -Poor feeding -Jaundice

Question 61

Complications of classic galactosemia:

Answer 61

-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

Question 62

MNT for galactosemia is lifelong ____ restriction

Answer 62

Galactose

Question 63

Those with galactosemia should strictly avoid ___ and ___ products, and all lactose-containing foods

Answer 63

Milk and dairy

Question 64

Infants with galactosemia should use a ___-based formula and can not have breast milk

Answer 64

Soy-based

Question 65

RDs should educate on ___ ___ for both hiding sources of milk and lactose

Answer 65

Label reading

Question 66

____ supplementation is often needed after infancy in those with galactosemia

Answer 66

Calcium

Question 67

___ ___ ____ cause an inability to metabolize glycogen to glucose in the liver due to enzyme defects

Answer 67

Glycogen storage disorders

Question 68

Type Ia glycogen storage diseases cause a deficiency of ____ ____ which converts glucose-6-phosphate to glucose

Answer 68

Glucose-6-phosphatase

Question 69

Glycogen storage diseases occur in 1 of every _____ births

Answer 69

100,000

Question 70

Glycogen storage diseases are ___ ___ disorders

Answer 70

Autosomal recessive

Question 71

Clinical manifestations of glycogen storage disorders:

Answer 71

-Severe hypoglycemia due to decrease glycogenolysis -Hepatomegaly due to abnormal glycogen accumulation in the liver -Poor growth -Lactic academia -Hypertriglyceridemia, hypercholesterolemia -Hyperuricemia

Question 72

Nutrition goals for someone with glycogen storage disease:

Answer 72

-Maintain normal blood glucose levels -Support normal growth and development

Question 73

MNT for glycogen storage diseases:

Answer 73

-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

Question 74

For someone with glycogen storage disease, they should get ___-___% of kcal from carbohydrates (primarily from complex carbs)

Answer 74

60-70

Question 75

For someone with glycogen storage disease, they should get ___-___% of kcal from protein (emphasizing lean sources)

Answer 75

10-15

Question 76

For someone with glycogen storage disease, they should get ___-___% of kcal from fat (limit SFA)

Answer 76

25-35

Question 77

Those with glycogen storage diseases often require ___ ____ ___ ___

Answer 77

Continuous nocturnal tube feeding

Question 78

___ ___ is sometimes given between meals and at night to maintain blood glucose levels

Answer 78

Uncooked cornstarch

Question 79

Raw cornstarch is digested more ___, allowing for a more gradual release of glucose

Answer 79

Slowly

Question 80

___-___ g/kg of cornstarch should be given every 4-6 hours

Answer 80

1.6-2.5

Question 81

People should not hear cornstarch or mix with ____ beverages because it will allow more rapid digestion

Answer 81

Acidic

Question 82

You should not use uncooked cornstarch in infants under ___ months, as it can cause gas and diarrhea

Answer 82

6

Question 83

Those with glycogen storage diseases should also limit...

Answer 83

-Fructose -Galactose -Sucrose -Lactose

Question 84

Fructose and galactose are metabolized to ____ ____, which later metabolized to lactate, lipids and uric acid

Answer 84

Glucose-6-phosphate

Question 85

People with glycogen storage diseases should take a MVI with minerals, as well as ___ supplementation

Answer 85

Calcium

Question 86

If people are consuming uncooked cornstarch, we should recommend an ___ supplement

Answer 86

Iron