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PKU MNT Note

Inborn Errors of Metabolism (PKU) MNT Note

Clarissa Sumanting

Professor Baird

November 2, 2020
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PKU MNT Note
1. What is the nutrition and dietetic diagnosis?

The nutrition diagnosis is – Intake of types of amino acids inconsistent with needs

(phenylalanine) (NI-5.7.1) related to phenylalanine restriction necessary for PKU

diagnosis as evidenced by elevated phenylalanine lab of 650 umol/l.

2. What are the aim and objectives of the dietetic intervention?

The main objective of the dietetic intervention is to teach the nutrition support staff

how to assist the patient in ordering a diet low in protein and/or phenylalanine from the

hospital menu, in addition to food items and meals that can be alternative choices to

help the patient consume adequate nutrition intake. Furthermore, the dietitian can

review over PKU nutrition education to assist in maintaining the patient’s blood

phenylalanine levels within normal range.

3. Explain how you would implement the dietetic intervention.

First, the dietitian will have to review over a low phenylalanine and low protein diet to

the nutrition support staff. Next, the dietitian and nutrition support can review over the

menu items that are low in protein from the hospital menu with the patient. The

dietitian can also re-educate the patient about the low phenylalanine diet and review

over phenylalanine-free medical formulas to be consumed to encourage meeting daily

adequate nutrition.
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4. How would you explain to the ward staff and the hospital chefs what a low

phenylalanine diet for PKU is?

A low phenylalanine diet can be explained to the ward staff and the hospital chefs by

emphasizing on a low protein diet for the patient. A brief explanation can be given that

phenylalanine is an amino acid found in protein foods. Therefore, the foods to be

avoided are those high in protein for individual’s diagnosed with PKU. A list may have to

be typed up or input into CBORD about the amount of phenylalanine present in not only

the obvious high-protein foods but also fruits, vegetables and grains to ensure the

patient does not go over her estimated phenylalanine levels.

5. Provide an example of a 2-day low phenylalanine diet with 10 exchanges that could be

provided in hospital.

1 exchange = 15 g of PHE1

10 exchanges = 150 g of PHE/day1

Day 1 Food item2 Amount of PHE # of Exchanges

(mg)2
Breakfast 1 slice of Low 13 mg 2.0
Protein Toast
1 tbsp butter 6 mg

1 cup apples, diced 7 mg

Medical Formula

Lunch Vegetable soup: 3.5

1 ½ cup Swanson
vegetable broth 0 mg
¼ cup carrots,
chopped
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PKU MNT Note
¼ cup celery,
chopped 9 mg
¼ cup onion,
chopped 7 mg
¼ cup mushroom,
chopped 6 mg

1 cup grapes 24 mg

Medical Formula
Dinner 1 cup Loprofin 7 mg 4.5
Vermicelli
¼ cup Hunt’s 20 mg
marinara sauce

¼ cup potatoes,
chopped 38 mg

Medical Formula
Day 2
Breakfast 1 slice Low Protein 16 mg 2
French Toast
½ cup orange juice 11 mg

Medical Formula
Lunch 1 slice Low Protein 13 mg 3
Bread
1 slice Daiya cheese 25 mg

1 cup apples, diced

7 mg
Medical Formula
Dinner 1 ½ cup Aglutella 20 mg 5
Macaroni
½ cup Hunt’s 20 mg
marinara sauce

1 slice Low protein 13 mg

bread
1 tbsp butter 6 mg

½ cup grapes 12 mg
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Medical Formula

6. How would you document Anne’s care?

Anne’s care would be documented through her initial nutrition assessment, calculating

her estimated nutrition needs to maintain adequate oral intake and a normal, healthy

body weight. Her orders will be taken by the nutrition support staff to ensure she is

following a low phenylalanine diet. Additionally, lab values will be monitored as well,

specifically serum phenylalanine, tyrosine and any indications of an iron deficiency.

7. What information would you need to collect to monitor and review Anne?

The information that would need to be collected to monitor and review Anne are the

following: her order history, food intake history, amount and frequency of PHE-free

medical formula consumed, weight, and lab values, specifically blood phenylalanine

levels and the levels of other amino acids, specifically tyrosine. 3

8. What outcome measure would you use to monitor objectives?

The outcome measures that would be used monitor the objectives are the following:

her weight, phenylalanine and tyrosine lab values, and her food intake history.

The dietitian can look at Anne’s past ordering history to assess her understanding of

adhering to a low protein/low phenylalanine diet. The patient’s serum phenylalanine

labs may also be reviewed to evaluate if the results are within normal limits as the
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patient continues to follow this restricted diet.

9. How would you involve Anne in her dietetic goal setting?

Anne can be involved in her dietetic goal setting by reviewing and practicing foods to

avoid and foods allowed to eat on a low phenylalanine diet. The dietitian and Anne can

also create a one-day sample menu to measure her understanding in following this

specialized diet.

10. How would you obtain feedback from Anne on your service?

Feedback can be obtained by the dietitian at follow-up and/or with the nutrition

support staff taking her orders and passing trays. This information can be used to assess

how she feels following this diet and consumption of the medical formula and if the

hospital menu allowed her to feel she was meeting her nutrition needs.

11. What other protein substitute could the patient take and what are the advantages of

these protein substitutes?

Other protein substitutes the patient could take are Phenyl-Free 2 or Phenex 2, which

are medical foods that consist of carbohydrates, essential and nonessential amino acids

as protein, fat, vitamins and minerals.3 These protein substitutes contrasts with the

patient’s current medical food, XP Maxamum, in that this product does not include a

variety of nutrients but only carbohydrates, essential amino acids, vitamins and

minerals.3 The advantage of these protein substitutes is their ability to provide a source
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of adequate nutrition that is low in phenylalanine and complete in other essential and

nonessential amino acids for individuals diagnosed with PKU.3

12. What range should an adult patient with PKU keep their blood phenylalanine

concentrations and how often should they be monitored?

According to the Nutrition Care Manual, the goal for an adult’s serum phenylalanine is

2-15 mg/dL or 120-900 mcmol/L, although it is recommended to be no higher than 10

mg/dL or 600 mcmol/L.3 These individuals should be monitored monthly whereas those

who are pregnant should be monitored twice weekly.3

13. What other considerations should females with PKU of child-bearing age be aware of?

For females diagnosed with PKU of child-bearing age, these women should be aware of

the condition Maternal PKU.4 This condition results in problems such as cardiac

anomalies, mental retardation and microcephaly for the infant. 4 This is due to the

female’s high levels of phenylalanine in the blood if she had not been following a low

phenylalanine diet at the time of conception or after beginning the diet after becoming

pregnant.4 It is recommended that pregnancy is delayed until the woman is able to

adhere to a restricted phenylalanine diet that can be maintained during pregnancy. 4

14. Discuss what you would do if the patient with PKU was not following a low

phenylalanine diet, and what would you advise?

If a patient with PKU was not following a low phenylalanine diet, the recommended
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general approach is to introduce this diet gradually, first by slowly introducing the

medical formula while decreasing the amount of high protein foods in one’s diet until it

is eventually limited.4

According to Dolan et al, a practical plan to beginning this diet includes the following

steps: (1) Eliminating cow’s milk and other liquids that are high protein from the adult’s

diet, (2) choosing a medical formula product for PKU with the help of a dietitian and

begin to include this in the diet as a shake, (3) gradually increase the quantity of the

medical formula once the dietitian calculates the estimated protein and energy needs,

(4) continue to consume low protein foods, (5) the PKU dietitian must monitor the

patient weekly to achieve the ideal serum phenylalanine for him or her, in addition to

maintaining the patient’s diet, consumption of calories and normal body weight. 4

15. What affects will surgery have on phenylalanine levels? How would you manage this?

Undergoing surgery will lead to an increase in one’s phenylalanine levels due to being in

a state of increased energy needs.1 The body may go through a catabolic state in which

the muscle, or protein, is broken down for nutrients, releasing phenylalanine into the

bloodstream.1 This may be managed by continuing to consume one’s medical formula

daily and at regular time intervals to meet one’s estimated energy needs, preventing the

body from breaking down muscle.1

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PKU MNT Note
1. Patient Data: A.X / 24 yo / female
 Patient Profile: A.X. is a 24-year-old female with phenylketonuria (PKU),
admitted for a knee cartilage repair operation.
 Past Medical History / Past surgical history: PKU diagnosis
 Patient Current Diagnosis: PKU, knee cartilage repair operation
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 Socio-economic status: Patient works as a secretary and lives with her parents.
2. Nutritional Assessment
 Anthropometrics
o Wt. 143 lb / 65 kg
o Ht. 60 in / 1.62 m
o BMI 24.8 kg/m2
o IBW 100 lb / 45.5 kg
o % IBW 143%
o Adj wt 110 lb / 50 kg
o UBW – N/A
 Labs
o Documented urea, electrolytes and nutrition bloods normal since last
clinic appointment, 6 months ago.
o Phenylalanine 650 umol/L, 3 months ago
 Medications
o 50 g XP Maxamum TID
 Diet / Allergies
o Low phenylalanine diet
o NKFA
 Nutritional Status / Estimated Nutritional Needs (kcal, protein, fluids)
o Based upon 25-30 kcal/kg of current body weight 65 kg
 1625 – 1950 kcal/day
o Based upon 1-1.2 g of protein/kg of current body weight 65 kg
 65 - 78 g/day
o Based upon 25-30 mL/kg of current body weight 65 kg
 1625 - 1950 mL/day
3. Nutrition Focus Physical Exam – N/A
4. Full assessment / Assessment Summary
A.X. is a 24-year-old female admitted to the hospital due to a planned knee cartilage
repair operation. She has been following a low phenylalanine diet due to her PKU
diagnosis and consumes 50 g of XP Maxamum TID. Her BMI of 24.8 kg/m 2 indicate she is
of normal weight and there was no report of a recent weight loss. Her most recent labs
from three months ago have documented a serum phenylalanine level of 650 umol/L,
slightly over the normal limit of 120-600 umol/L.
5. Nutrition Care Process: Implementation of MNT - Medical Nutrition Therapy
 Nutrition Diagnosis
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PKU MNT Note
o Intake of types of protein or amino acids inconsistent with needs
(phenylalanine) (NI-5.7.3)
 PES
o Intake of types of protein or amino acids inconsistent with needs
(phenylalanine) related to protein/phenylalanine restriction necessary for
PKU treatment as evidenced by elevated phenylalanine labs of 650
umol/L.
 Nutritional Interventions
o Educate patient and nutrition support staff about available food options
on the menu that supports a low phenylalanine diet to assist patient in
meeting estimated nutrition needs.
o Continue 50 mg of XP Maxamum TID.
 Recommendations
o Recommend patient to begin/continue a food journal to track the food
items and total mg of phenylalanine she consumes daily.
o Recommend continued monthly clinic appoints for monitoring.
o Recommend trialing a different protein substitute, Phenex 2, to include a
variety of nutrients that XP Maxamum does not provide.
 Goals / Plan
o Patient to meet at least 75% of estimated nutrition needs within 3-5 days.
o Patient to maintain serum phenylalanine levels within normal limits, 2-10
mg/dL or 120 – 600 umol/L during admission.
 Education (if provided)
o Review with patient the importance of adhering to a low phenylalanine
diet and consuming medical formula daily to meet estimated nutrition
needs, especially following a surgery.
6. Federal Regulations / Billing and coding for MNT
 MNT units 15 minutes for initial assessment. E70.0 Classical phenylketonuria

Summary of the disease

Phenylketonuria (PKU) is an inborn error of protein metabolism in which an individual

has an increased amount of the amino acid, phenylalanine, in his or her blood due to a
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deficiency of the enzyme phenylalanine hydroxylase.4 The role of this liver enzyme is to catalyze

phenylalanine into the amino acid tyrosine.4 The increased amount of blood phenylalanine

levels due to this enzyme deficiency causes several deficits or damages such as the following:

intellectual disability, unusual body order, diminished pigmentation, seizures, eczema, and

behavioral problems.4

According to the Nutrition Care Manual, the nutrition intervention for an individual

diagnosed with PKU includes the following: (1) supporting adequate nutrition consumption to

meet estimated nutrition needs and maintain a healthy body weight, (2) adhering to a low

phenylalanine diet to maintain blood phenylalanine levels that allows for the individual to

function normal neurologically, and (3) understanding the importance of following this

specialized diet and consuming a medical formula to maintain one’s health, nutrition and blood

phenylalanine levels.4 Specifically, the use of a medical phenylalanine-free formula should

provide about 75% of the individual’s protein and other essential nutrients. 4 The foods that are

restricted in a low phenylalanine diet are the those high in protein, such as poultry, fish, meat,

eggs, dairy food items, nuts, seeds, and etc.4 Foods that are allowed in this diet but must be

monitored and weighed are fruits, vegetables, breads, crackers and special low-protein foods

and cereals.4 Estimated nutrition needs will be individualized for each patient but should be

compared to the current guidelines of Recommended Dietary Allowance and Dietary Reference

Intakes for healthy individuals.4 There is also information available when estimating the amount

of energy, protein, fluid, phenylalanine and tyrosine according to age in other references. 5

In addition to adhering to this specialized diet, the medication Sapropterin has been

administered to those with PKU to assist in activating the phenylalanine hydroxylase enzyme to
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PKU MNT Note
decrease the levels of phenylalanine in the blood.5 Sapropterin can aid in improving tolerance to

dietary phenylalanine which may allow an increased intake of dietary protein for these

individuals.5
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References:

1. Chapter 2: Treatment and Diet Overview. National PKU Alliance Website.

https://www.npkua.org/portals/0/pdfs/pkubinder/PKU%20Binder%202011-Ch2.pdf
Accessed November 1, 2020.

2. Low Protein Foods List. University of Washington Website.

https://depts.washington.edu/pku/PDFs2/ModifyingRecipesFoodList.pdf Accessed
November 1, 2020.

3. Academy of Nutrition and Dietetics. Nutrition Care Manual. Phenylketonuria.

https://www-nutritioncaremanual-org.ezproxy.gvsu.edu/topic.cfm?
ncm_category_id=1&lv1=273102&lv2=24131&ncm_toc_id=24131&ncm_heading=Nutri
tion%20Care Accessed October 31, 2020.

4. Diet Intervention Guidelines for Adults with Untreated PKU. PKU News Website.
https://pkunews.org/diet-intervention-guidelines-for-adults-with-untreated-pku/#basic
Updated August 2000. Accessed October 31, 2020.

5. Nelms M, Sucher KP, Lacey K. Nutrition Therapy and Pathophysiology. Boston, MA:
Cengage Learning; 2016.