Phenylketonuria (PKU) is a rare genetic disorder where the body cannot break down the amino acid phenylalanine, causing intellectual disabilities if left untreated. Newborns are screened to identify PKU early to prevent health problems. Treatment involves a lifelong low-protein diet that limits phenylalanine intake through food choices and phenylalanine-free medical formulas. A sample meal plan and recipe for a low-protein sweet veggie pizza are provided to demonstrate how to create nutritionally balanced meals within phenylalanine restrictions.

1. Phenylketonuria (PKU)
Theresa Koneski
NUFD 255
Medical Condition Presentation

2. Background - Theory
• A rare disorder which is inherited only if both parents carry the gene
• Newborn babies are screened to prevent serious health problems
• PKU disorder hinders the enzyme needed to breakdown phenylalanine
• Phenylalanine = amino acid found in foods high in protein
• If phenylalanine builds up in the body it causes intellectual disability,
emotional, behavioral, psychological, social, and neurological problems
• Delays and/or hinders normal development

3. Background – Nutrition Concerns
• Lack of grains, beans, nuts, and animal products causes deficiencies in
numerous micronutrients
• Zinc, selenium, iron, Vitamin B12, and folate are generally lower
• Calcium, Vitamin A, C, D, and E supplements are required
• Recommended to focus on calcium, phosphorus, & Vitamin D for optimal
bone health
• Manganese is frequently recorded as being too high or too low

4. Background - Treatment
• Dietary:
• Limit foods high in protein
• Consume higher carbohydrate diet
• Avoid food & beverages containing aspartame, which releases phenylalanine in the body
• Consult with dietitian for a meal plan
• Consume PKU formula as a protein supplement
• Medical:
• Can try neutral amino acid therapy (tablet or powder form)
• May block some phenylalanine absorption in the body and prevent brain damage
• Be cautious about medications and other oral supplements, some contain phenylalanine
• Regular blood tests to monitor PKU levels, review diet records, chart growth, & assess development

5. Individual with PKU
• Anthropometry:
• Height: 167.64 cm Weight: 60 kg Age: 23 Gender: female
• Activity factor: moderate exercise 3-5 days/week: 1.55
• 4 meals per day
• BEE: 655 + (9.6 x 60 kg) + (1.8 x 167.6 cm) – (4.7 x 23 years)
BEE = 1,424.60 kcal
• TEE = 1,424.60 x 1.55
TEE = 2,208.13 kcal
• Calorie needs: 2,208.13/4 = 552.03 kcal per meal

6. Recipes:
Sweet Veggie Pizza servings: 4
1 lb low-protein pizza dough (see recipe below)
2 cups tomato sauce
18-oz artichoke hearts
0.8 cup black olives
1 cup shiitake mushrooms
34 mL olive oil
2 medium sweet onions
1 cup spinach
4 small apples
4-oz mozzarella cheese
Directions:
1. Preheat oven to 450℉ .
2. Caramelized onions: In a large skillet heat 2 tbsp. olive oil over medium-high heat until
very hot but not smoking. Add sliced onions and drizzle with remaining olive oil.
Reduce heat to low, cover and cook, stirring every 10 minutes to prevent burning and
sticking, for 25-30 minutes or until onions are soft and brown.
3. Meanwhile, on prepared baking sheet or pizza stone, spread dough using your fingertips
to gently press the dough out so it covers the entire sheet. Bake in preheated oven for 6
to 8 minutes or until dough starts to harden but not brown. Let cool in pan on a rack for
about 10 minutes.
4. Spread tomato sauce over crust and scatter caramelized onions, artichokes, olives,
mushrooms, spinach, apples, and mozzarella.
5. Bake for 10 to 12 minutes or until crust is browned around the edges.
Low Protein Pizza Dough servings: 4
1 cup warm water
1/2 tsp brown sugar
120 gm bread mix
½ tsp olive oil
1/8 tsp garlic powder
.56 tsp active dry yeast
Directions:
1. Combine in a small bowl ½ cup warm water, dry yeast, and the brown sugar, and mix
well. Let it go frothy, about 5 minutes.
2. In a large bowl, combine garlic powder, bread mix, ½ tsp olive oil, and frothy yeast
mixture. Adding more warm water, beat with a wooden spoon or dough cook until
mixture forms a sticky dough.
3. Transfer to a greased bowl and let the dough rise for 20 minutes. Spread dough using
your fingertips to cover baking sheet or pizza stone.
4. Bake pizza dough for 6 to 8 minutes before filling to prevent a soggy crust.

7. Analysis: Pertinent Macronutrient,
Vitamin, and/or Mineral
Daily Recommended Intake
and/or AMDR Range
Your Recipe % of DRI or
AMDR %
Total Calories 2,208.13 kcal/day; 552.03
kcal/meal
540 kcal 97.8%
Protein 10-20% 21.38 g;
85.52 kcal
15.8%
Carbohydrates 50-60% 86.25 g;
345 kcal
63.9%
Total Fat 20-35% 15.14 g;
136.26 kcal
25.2%
Saturated Fat <7% 2.86 g;
25.74 kcal
4.8%
Fiber 25 g/day 21.45 g 343.2%
Sodium 1.5 g/day 1.35 g 360%
Manganese 1.8 g/day 1.13 g 251.1%
Selenium 55 μg/day 25.73 μg 187.1%
Folate 400 μg/day 232 μg 232%
Vitamin B12 2.4 μg/day .536 μg 87.7%
Calcium 1000 mg/day 461 mg 184.4%
Iron 18 mg/day 5.25 mg 116.7%
Zinc 8 mg/day 3.06 mg 153%
Vitamin A 700 μg/day 648.3 μg 370.5%
Vitamin C 75 mg/day 34.92 mg 186.2%
Vitamin D 15 μg/day 6 μg 160%
Vitamin E 15 mg/day 5.36 mg 142.9%

8. Modified:
• Originally, recipe contained red bell peppers
• Caused too high levels of Vitamins A &
C
• Substituted with shiitake mushrooms
• Also increased Vitamin B12
• Added apples, spinach, and a little mozzarella
cheese to balance micronutrients
• Decreased amount of bread mix because
carbohydrate content was too high
• Decreased amount of tomato sauce because
Vitamin A and Manganese was too high

9. Sources:
• http://www.sciencedirect.com/science/article/pii/S1096719213003211
• http://pediatrics.aappublications.org/content/104/6/e68.full
• http://www.biomedcentral.com/content/pdf/1743-7075-9-7.pdf
• http://www.mayoclinic.org/diseases-
conditions/phenylketonuria/basics/symptoms/con-20026275
• http://www.vitamins-supplements.org/amino-acids/phenylalanine.php