Management
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PKU Nutrition Management Guidelines
First Edition
March 2015, v.1.12
Updated: August 2016
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List of Tables
TABLE #1: Laboratory and Clinical Findings in PKU

Laboratory Test or Clinical Symptoms1

Newborn
(Pre-treatment)

Untreated or Suboptimal Control2

Treated
(Lifetime Good Control)3

MS/MS NBS on blood spot

↑ to ↑↑PHE,

(flagged high if PHE >130 μmol/L)4

n/a

n/a

Blood PHE

↑ to ↑↑

↑ to ↑↑

slightly ↑

Blood TYR

normal or slightly ↓

normal or low normal

PHE:TYR ratio

↑ (>3)4

>65

<65

Microcephaly

+/−

Musty body odor

+/−

+/−

Decreased pigmentation of skin, hair, iris

+/−

+/−

Eczema

+/−

Intellectual disability

+6

Executive function deficits

n/a

+/−

- 7

Neurologic symptoms (e.g. seizures, tremors)

+/−

Behavior problems, attention deficits

+

Depression, anxiety, agoraphobia

+/−

1 Laboratory and clinical symptoms typically seen in severe or classic PKU
Blood PHE > 360 μmol/L
Lifetime blood PHE 120-360 μmol/L
4L.198
5F.1171
6 Severityof intellectual disability is related to lifetime exposure to elevated blood PHE (L.192)
7 No studies of executive function are reported in patients with lifetime blood PHE <360 μmol/L

TABLE #2: Classification of PKU

Severity of PAH Deficiency

Blood PHE Concentration Pre-treatment

Dietary PHE Tolerance
(Intake to Maintain Blood PHE Concentration           120- 360 µmol/L)

PAH Genotype

  

 PHE intake

(mg/kg/day)

PHE intake

(mg/day)

 

Classical PKU

>1200 μmol/L

<20

250-350

2 classic mutations (often null)

Moderate PKU

900-1200 μmol/L

20-25

350-400

1 classic + 1 moderate, or 2 moderate  mutations

Mild PKU

600-900 μmol/L

25-50

400-600

1 classic, moderate, or mild mutation + 1 mild HPA mutation

Mild HPA

360-600 μmol/L

>50

No data

1 classic, moderate, or mild mutation + 1 mild HPA mutation

Adapted from Camp et al. (2014), F.2629, Table 2- http://www.sciencedirect.com/science/article/pii/S1096719214000857#

TABLE #3: Recommended Intakes of PHE, TYR and Protein for PKU

Infants to <4 yr1

AGE

PHE
(mg/day)

TYR
(mg/day)

Protein2
(g/kg/day)

0 to <3 mo3

130-430

1100-1300

2.5-3.0

3 to <6 mo

135-400

1400-2100

2.0-3.0

6 to <9 mo

145-370

2500-3000

2.0-2.5

9 to <12 mo

135-330

2500-3000

2.0-2.5

1 to <4 years4

200-320

2800-3500

1.5-2.1

After Early Childhood5

AGE

PHE
(mg/day)

TYR
(mg/day)

Protein2
(g/day)

>4 yr-adult

200-1100

4000-6000

120-140% DRI for age6

Pregnancy and Lactation7

AGE

PHE
(mg/day)

TYR
(mg/day)

Protein2
(g/day)

Trimester 1

265-770

6000-7600

>70

Trimester 2

400-1650

6000-7600

>70

Trimester 3

700-2275

6000-7600

>70

Lactation8

700-2275

6000-7600

>70

1 Adapted from Acosta (G.102), recommendations for PHE and TYR intake are for infants and children <4 yrs with more severe PKU and treated with PHE-restricted diet alone. TYR intake recommendations may require adjustment based on blood TYR monitoring.
2 Protein recommendations are for individuals consuming medical foods as the major protein source.
3 PHE recommendations for premature infants may be higher.
4 PHE tolerance is usually stablized by 2-5 years of age (F.2627). Recommendations are based on size (increases with age) and growth rate (decreases with age). Individual PHE intake recommendations should be adjusted based on frequent blood PHE monitoring.
5 Adapted from Acosta (G.102). Range of recommended PHE intake applies to spectrum of PKU severity (mild to severe).
6 Recommended protein intake greater than the DRI is necessary to support normal growth in PKU.
7 Recommendations are slightly higher for pregnant women ≤19 years of age.
8 Recommended nutrient intake during lactation is same as for third trimester of pregnancy for all women.

TABLE #4: Nutrition Problem Identification for PKU

Nutrition Diagnosis

(Problem)

Related to

(Etiology)

As Evidenced By

(Signs and Symptoms)

Based on assessment findings, specify the current nutrition-related problem(s) to be addressed through nutrition management.

Identify the most pertinent underlying cause(s) or contributing risk factors for the specific problem.The etiology is commonly the target of nutrition intervention.

List subjective and objective data that characterize the specific problem and are also used to monitor nutrition intervention and outcomes.

Examples of specific nutrition problems:

Examples of underlying causes of the problem:

Examples of data used to determine and monitor the problem:

Intake Domain

Excessive protein intake

Intake of types of protein or amino acids inconsistent with needs (specify)

Predicted excessive energy intake

Predicted suboptimal energy intake

Excessive fat intake

Inadequate fat intake

Excessive enteral nutrition infusion

Inadequate enteral nutrition infusion

Enteral nutrition composition inconsistent with needs

Clinical Domain

Impaired nutrient utilization

Altered nutrition-related lab values

Food-medication interaction (specify)

    Growth rate below expected

    Underweight

    Overweight/obesity

      Behavioral-Environmental Domain

      Food and nutrition-related knowledge deficit

      Limited adherence to nutrition-related recommendations

      Limited access to food

      Consumption Factors

      Lack of medical food consumption

      Suboptimal medical food consumption

      Excessive intake of (specify food or beverage)

      Provider Factors

      Nutrition prescription no longer meets protein needs

      Nutrition prescription no longer meets energy needs

      Introduction of adjunctive therapy

      Underlying Disease Factors

      New diagnosis of PKU

      Protein/PHE restriction necessary for PKU treatment

      Acute illness or infection

      Poor appetite due to (specify)
       

      Patient/Caretaker Knowledge and Behavior Factors

      Food choices suboptimal

      Lack of knowledge

      Limited adherence to dietary therapy recommendations

      Presentation to clinic for initial nutrition education

      Off diet

      Access Factors

      Lack of financial resources for medical food

      Inadequate insurance or denial of coverage for special metabolic formulas

      Lack of access to resources or care

      From Biochemical Tests

      Laboratory value compared to norm or goal (specify) (e.g. plasma PHE of 700 umol/L)

      Elevated amino acids (specify)

      From Anthropometrics

      Growth pattern, weight, weight-for-height or BMI compared to standards (specify)

      Weight gain/loss (specify weight change) over the past (specify time frame)

      From Clinical/Medical Exam or History

      New diagnosis of PKU

      New or adjusted prescription for adjunctive therapy

      EFA deficiency (physical sign or lab value)

      From Diet History

      Estimated or calculated intake from diet record or dietary recall, compared to recommendation or dietary prescription (specify)

      From Patient Report

      Verbalized lack of skill or understanding to implement nutrition prescription

      Denial of medical food coverage by insurance company

      Lack of social or familial support

      Table content is based on Nutrition Care Process (NCP) terminology developed by the Academy of Nutrition and Dietetics. NCP uses the following structure for documenting nutrition problems: nutrition diagnosis (Problem), related to (Etiology), and as evidenced by (Signs and Symptoms). Examples listed identify concerns particular to PKU and are grouped in domains of: Intake, Clinical, and Behavioral-Environmental. Problems identified may relate to any Etiology and be evidenced by any Signs and Symptoms within a domain.

      TABLE #5: Comparison of Recommendations for Dietary Protein Intake for Infants and Children under 4 Years of Age to the 2015 GMDI/SERC Guideline Recommendation

      Age

      Dewey1

      WHO/FAO/UNU2

      DRI3

      120-140% of
      DRI3

      Ross Protocol4

      GMDI/SERC Guideline

      General population

      Individuals with PKU

      grams protein per kg ideal body weight

      0 to <3 mo 

      1.5-2.7

      1.3

      1.5

      1.8-2.1

      3-3.5

      2.5-3

      3 to <6 mo

      1.2-1.4

      1.3

      1.5

      1.8-2.1

      3-3.5

      2.0-3

      6 to <12 mo

      1.0-1.1

      1.1

      1.5

      1.8-2.1

      2.5-3

      2.0-2.5

      1 to <4 yr

      1.1

      0.9-1.1

      1.1

      1.3-1.5

      2.1

      1.5-2.1

      1L.199
      2 World Health Organization (WHO), Food and Agriculture Organization of the United Nations (FAO), United Nations University (UNU) 2007.
      3 Derived from RDA for protein.
      4 Nutrition Support Protocols, 4th edition (G.102)

      TABLE #6: Classification of Medical Foods for PKU

      Classification

      Complete

      No Added Fat

      Amino Acids

      Glycomacropeptide

      Large Neutral Amino Acids

      Nutrient Profile

      Amino acids, carbohydrates, fats, vitamins and minerals

      Amino acids, carbohydrates, vitamins and minerals

      No carbohydrates or fats; few or no vitamins and minerals

      Modified whey protein with limited PHE; supplemented with HIS, LEU, TYR, TRP, ARG, variable carbohydrates, fats, vitamins and minerals

      Variable carbohydrates, fats, vitamins, and minerals

      Protein:energy ratio

      (PRO g/100 Kcal)1

      Low to medium

      Medium to high

      High

      Variable

      Variable

      Forms

      Powder, ready-to-drink

      Powder, ready-to-drink, gel

      Powder, capsules, tablets, bars

      Powder, ready-to-drink, bars, pudding

      Powder, tablets

      Products designed  for infants2

      Periflex Infant5

      Phenex-16

      Phenyl-Free 17

      None

      None

      None

      None

      Products designed for children3

      Camino Pro AA8

      Milupa PKU 25

      Periflex Advance5

      Periflex Jr Plus5

      Periflex Junior5

      Periflex LQ5

      Phenex-26

      PhenylAde5

      PhenylAde Essential5

      Phenyl-Free 27

      Phenyl-Free 2HP7

      Lophlex LQ5

      PhenylAde RTD5

      PhenylAde 405

      PhenylAde 605

      Phlexy-10 system5

      PKU Coolers 109 PKU Coolers 159 PKU Coolers 209

      PKU Express 159 PKU Express 209

      PKU Gel9

      XPhe Maxamaid5

      XPhe Maxamum5

      None

      Glytactin BetterMilk8,10

      Glytactin Complete 10 Bars8

      Glytactin Complete 15 Bars8

      Glytactin RTD 108

      Glytactin RTD 158

      Glytactin Restore8

      Glytactin Restore Lite8

      Glytactin Swirl8,10

      None

      Products designed for adolescents and adults4

      Camino Pro AA8

      Milupa PKU 35

      Periflex Advance5

      Phenex-26

      PhenylAde Essential5

      Phenyl-Free 27

      Phenyl-Free 2HP7

      Lophlex LQ5

      Lophlex5

      PhenylAde 405

      PhenylAde 605

      PhenylAde RTD5

      Phlexy-10 system5

      PKU Coolers 109 PKU Coolers 159 PKU Coolers 209

      PKU Express 159 PKU Express 209

      XPhe Maxamum5

      PhenylAde Amino Acid Blend MTE5

      PhenylAde Amino Acid Blend5

      PhenylAde Amino Acid Bars5,11

      Phlexy-105

      Glytactin Better Milk8,10

      Glytactin Complete 10 Bars8

      Glytactin Complete 15 Bars8

      Glytactin RTD 108

      Glytactin RTD 158

      Glytactin Restore8

      Glytactin Restore Lite8

      Glytactin Swirl8,10

      Lanaflex5

      PheBloc5

      This table contains examples of products available in the United States as of November 2014. Inclusion of any product does not represent endorsement.

      1 Protein to energy categories (PRO g/100 Kcal): High 11-25, Medium 5-10, Low <5
      2 Suitable for infants and children <1 year of age
      3 Products not appropriate for children <1 year of age; check manufacturer's information for nutrient profile
      4 Some products may be appropriate for children depending on clinical circumstances, especially if used in combination with other products
      5 Nutricia North America
      6 Abbott Nutrition
      7 Mead Johnson Nutrition
      8 Cambrooke Therapeutics
      9 Vitaflo USA
      10 Also supplemented with MET
      11 Contains fat and carbohydrate, but no vitamins or minerals

      TABLE #7: Recommendations for Nutrient Intake and Sources in the Dietary Treatment of PKU

      Nutrient

      Recommendation

      Source

      PHE

      Provide sufficient PHE intake to allow adequate protein synthesis for growth and health maintenance, and to achieve blood PHE concentrations 120-360 µmol/L. 

      PHE tolerance is dependent on residual PAH activity, age, weight, sex, and life stage.

      Intact protein

      In infants: breast milk or infant formula

      In children and adults: foods such as fruits vegetables and some grains/cereals

      Protein

      Provide DRI1

      Provide an additional 50% for infants and children 0-4 years, and 20-40% for older children and adults if medical food is the major source of protein.

      PHE-free medical food

      Amino acid-based or GMP protein-based

      Intact PRO

      As described above for PHE source

      TYR

      Provide DRI1

      TYR becomes a conditionally essential amino acid when PHE intake is restricted.

      PHE-free medical food

      Intact PRO

      Supplemental TYR2        

      KCAL

      Provide DRI1

      PHE-free medical food

      Intact PRO

      Free foods3

      Modified low protein foods4

       

      Other Nutrients, Minerals and Vitamins5

      Provide DRI1

      PHE-free medical food

      Intact protein

      Supplemental nutrients, vitamins and minerals6

       

      1 For age, size, sex, and life stage
      2 Tyrosine is added in sufficient amounts to PHE-free medical foods. Low plasma TYR may occur in those individuals: not consuming adequate medical food, consuming medical foods prepared incorrectly with TYR poorly dissolved, or having increased demands as seen in MPKU.
      3 Free foods contain no detectable PHE or protein, and consist primarily of sugars, pure starches and fats.
      4 Modified low protein specialty foods (e.g. pastas, baked goods) are formulated to replace higher protein grains/flours with protein-free starches.
      5 Includes essential fatty acids and DHA, vit D, vit A, Ca, Fe, Zn, and Se.
      6 Many PHE-free medical foods are supplemented with nutrients and micronutrients that may be deficient in a PHE restricted diet, and adherence to the full medical food prescription is important to meet these nutrient requirements. Some medical foods (e.g. products modified to improve taste or decrease calories or volume) may have insufficient supplementation of micronutrients, vitamins and minerals.

      TABLE #8: Monitoring Nutritional Management of PKU

      Domain Measures

      Infants
      (0- <1 yr)

      Children
      (1- <8 yrs)

      Children & Adults
      (8-18 yrs)

      Adults

      Planning Pregnancy or Pregnant

      Postpartum and Lactation

      Assessment of Clinical Status

      Nutrition visit in clinic

      (dietary intake and nutrient analysis1, nutrition-related physical findings, nutrition counseling, diet education)

      Weekly to every 3 months

      Monthly to every 6 months

      Every 6-12 months

      Every 6-12 months

      Monthly to per trimester

      At 6 weeks postpartum, then every 6 months

      Interim nutrition contact

      (diet adjustment based on blood PHE and TYR, or counseling at clinic or by phone/electronic communication)

      Twice weekly to weekly

      Weekly to monthly

      Weekly to monthly

      Monthly

      Once to twice weekly

      Weekly to monthly

      Anthropometrics2

      (weight, length or height, weight for length or BMI, head circumference through 36 months and as indicated)

      At every clinic visit

      At every clinic visit

      At every clinic visit

      At every clinic visit

      At every clinic visit

      At every clinic visit

      Quality of life (QoL)3

      Yearly

      Neurocognitive testing4

      As appropriate for age

      Assessment of Biochemical Status (Routine)

      PHE

      (plasma, serum, or whole blood5)

      Twice weekly to weekly

      Weekly to monthly

      Weekly to monthly

      Monthly

      Once to twice weekly

      Monthly

      TYR

      (plasma, serum, or whole blood)5

      Twice weekly to weekly

      Weekly to monthly

      Weekly to monthly

      Monthly

      Twice weekly to weekly

      Monthly

      Complete amino acid profile5

      As indicated6

      At every clinic visit

      At every clinic visit

      At every clinic visit

      Weekly to monthly

      At every clinic visit

      Transthyretin (prealbumin)

      6-12 months

      6-12 months

      6-12 months

      6-12 months

      Monthly to per trimester

      6-12 months

      Albumin or total protein

      6-12 months or as indicated

      6-12 months or as indicated

      6-12 months or as indicated

      6-12 months or as indicated

      Per trimester

      6-12 months or as indicated

      Complete blood count

      6-12 months

      6-12 months

      6-12 months

      6-12 months

      Per trimester

      6-12 months

      Ferritin

      6-12 months

      6-12 months

      6-12 months

      6-12 months

      Per trimester

      6-12 months

      Vitamin D 25-OH

      6-12 months

      6-12 months

      6-12 months

      6-12 months

      Per trimester

      6-12 months

      Assessment of Biochemical Status (Conditional)7

      Comprehensive metabolic panel, serum vitamin B12, erythrocyte folate, zinc, copper, essential fatty acids

      Yearly or as indicated

      Yearly or as indicated

      Yearly or as indicated

      Yearly or as indicated

      At first visit and then as indicated

      Yearly or as indicated

      Assessment of Bone Density

      DXA scan

      (Dual-energy X-ray absorptiometry)

      n/a

      Every 5 years beginning with baseline at age 5

      Every 5 years

      Every 5 years

      n/a

      n/a

      Recommendations are derived from the NIH Scientific Review Conference report (F.2629), ACMG Practice Guidelines (F.2626), Delphi Survey and Nominal Group consensus, and clinical practice resources (G.101, G.102, G.105). Recommended frequency of clinical and laboratory assessments represent practice goals, but may not be possible under all clinical circumstances or appropriate for all individuals with PKU. Clinicians should apply professional judgment in making individualized monitoring choices. More frequent monitoring may be necessary if the individual is not in good metabolic control.

      1 Whenever blood PHE is monitored, a mechanism for assessing dietary intake should be in place. MetabolicPro (http://www.metabolicpro.org) is a computer program available for dietary analysis of amino acid-restricted diets.
      2 To evaluate growth: the Centers for Disease Control and Prevention (CDC) recommends the 2006 World Health Organization (WHO) Child Growth Standards for infants from birth to 24 months, and the 2000 CDC Growth Charts for children from 2 to 20 years. Techniques for measurement are described on the CDC website (http://www.cdc.gov/growthcharts/cdc_charts.htm).
      3 QoL instruments specific for individuals with PKU have not yet been published. Studies using existing QoL instruments to assess individuals with PKU compare outcomes to individuals with other chronic disorders or to control groups (F.1256, F.2348, F.2372, F.2533, F.2555).
      4 See TABLE #9, Recommendations for Neurocognitive Testing in PKU
      5 Monitoring protocols may include mail-in blood specimens (using filter paper cards or capillary tubes), or use of local or state public health laboratories, and are optimal for assuring effective monitoring frequency. When plasma amino acid analysis is the only available means of PHE and TYR monitoring, access and cost may limit monitoring frequency.
      6 There was consensus from the Delphi 2 Survey and the Nominal Group that a complete amino acid profile is not necessary at ≤ 1 year of age when PHE and TYR monitoring is adequate.
      7 Monitoring is indicated when: nutrition assessment shows poor adherence to prescribed therapy (diet, medical food, or pharmacotherapy), incomplete medical food is consumed, clinical symptoms of nutritional inadequacy are present (e.g. poor growth), or there is serious intercurrent illness. If laboratory values are abnormal, reassessment of appropriate specific analytes should be scheduled.

      TABLE #9: Recommendations for Neurocognitive Testing in PKU
      TABLE #10: Recommended Intake of PHE, TYR, Protein and Energy for an Infant with PKU

      Infants to <4 Year1

      AGE

      PHE2
      (mg/day)

      TYR2
      (mg/day)

      Protein3
      (g/kg/day)

            Energy4      (Kcal/kg/day)

      0 to <3 mo5

      130-430

      1100-1300

      2.5-3.0

      95-145

      3 to <6 mo

      135-400

      1400-2100

      2.0-3.0

      95-145

      6 to <9 mo

      145-370

      2500-3000

      2.0-2.5

      80-135

      9 to <12 mo

      135-330

      2500-3000

      2.0-2.5

      80-135

      1 to <4 years6

      200-320

      2800-3500

      1.5-2.1

      900-1800

      1This table is an excerpt of  Guideline TABLE #3, Recommended Intakes of PHE, TYR and Protein for PKU. DRI energy recommendations are added and noted with italics. 

      2 Adapted from Acosta (G.102), recommendations for PHE and TYR intake are for infants and children <4 yrs with more severe PKU and treated with PHE-restricted diet alone. TYR intake recommendations may require adjustment based on blood TYR monitoring.

      3 Recommendations are for individuals consuming medical foods as the major protein source. Recommended protein intake greater than the DRI is necessary to support normal growth in PKU.

      4 From R.32.

      5 PHE recommendations for premature infants may be higher.

      6 PHE tolerance is usually stabilized by 2-5 years of age (F.2627). Recommendations are based on size (increases with age) and growth rate (decreases with age). Individual PHE intake recommendations should be adjusted based on frequent blood PHE monitoring.

      TABLE #11: Composition of Breast Milk, Infant Formula, and Medical Food for an Infant with PKU

      Components1

      Amount

      PHE
      (mg)

      TYR
      (mg)

      Protein (gm)

      Energy
      (Kcal)

      Breast milk (mature)

      100 ml

      47

      57

      1.07

      72

       

      1 oz /30 ml

      14

      17

      0.32

      22

      Enfamil Infant

      100 g

      420

      490

      10.6

      500

      Phenyl-Free 1

      100 g

      0

      1600

      16.2

      500

      1 Values taken from R.30 and R.39 product manual

      TABLE #12: Calculation of Formula Mixture Containing Breast Milk and Medical Food for an Infant with PKU

      Components1

      Amount

      PHE
      (mg)

      TYR
      (mg)

      Protein
      (gm)

      Energy
      (Kcal)

      Breast milk

      320 ml (11 oz)

      150

      182

      3.4

      230

      Phenyl-Free 1

      28 g made to 210 ml (7 oz)

      0

      448

      4.5

      140

      TOTALS

          530 ml (18 oz)

      150

      630

      8 g

           370 Kcal (21 Kcal/oz)

      1 Values taken from R.30 and R.38 product manual

      TABLE #13: Calculation of Formula Mixture Containing Infant Formula and Medical Food for an Infant with PKU

      Components1

      Amount

      PHE
      (mg)

      TYR
      (mg)

      Protein
      (gm)

      Energy
      (Kcal)

      Enfamil Infant

      36 g

      151

      176

      3.8

      180

      Phenyl-Free 1

      38 g

      0

      186

      6.2

      190

      TOTALS

      Water to make 530 ml (18 oz)

      150

      630

      10 g

           370 Kcal (21 Kcal/oz)

      1 Values taken from R.30 and R.39 product manual

      TABLE #14: Monitoring Nutritional Management for an Infant with PKU

      Domain Measures1

      Infants
      (0 to <1 yr)

      Assessment of Clinical Status

      Nutrition visit in clinic

      (dietary intake and nutrient analysis2, nutrition-related physical findings, nutrition counseling, diet education)

      Weekly to every 3 months

      Interim nutrition contact

      (diet adjustment based on blood PHE and TYR, or counseling at clinic or by phone/electronic communication)

      Twice weekly to weekly

      Anthropometrics3

      (weight, length or height, weight for length or BMI, head circumference through 36 months and as indicated)

      At every clinic visit

      Assessment of Biochemical Status (Routine)

      PHE

      (plasma, serum, or whole blood)4

      Twice weekly to weekly

      TYR

      (plasma, serum, or whole blood)4

      Twice weekly to weekly

      Complete amino acid profile4,5

      As indicated

      1This table is an excerpt of Guideline TABLE #7, Recommendations for Nutrient Intake and Sources in the Dietary Treatment of PKU

      2 Whenever blood PHE is monitored, a mechanism for assessing dietary intake should be in place. R.30 is a computer program available for dietary analysis of amino acid-restricted diets.

      3 To evaluate growth: the Centers for Disease Control and Prevention (CDC) recommends the 2006 World Health Organization (WHO) Child Growth Standards for infants from birth to 24 months, and the 2000 CDC Growth Charts for children from 2 to 20 years. Techniques for measurement are described on R.31.

      4 Monitoring protocols may include mail-in blood specimens (using filter paper cards or capillary tubes), or use of local or state public health laboratories, and are optimal for assuring effective monitoring frequency. When plasma amino acid analysis is the only available means of PHE and TYR monitoring, access and cost may limit frequency.

      5 There was consensus from the Delphi 2 Survey and the Nominal Group that a complete amino acid profile is not necessary at ≤ 1 year of age when PHE and TYR monitoring is adequate.

      TABLE #15: Calculation of Modified Formula Mixture Using Breast Milk for an Infant with PKU

      Components1

      Amount

      PHE
      (mg)

      TYR
      (mg)

      Protein
      (gm)

      Energy
      (Kcal)

      Breast milk

      300 ml (10oz)

      141

      171

      3.2

      216

      Phenyl-Free 1

      50 g made to 360 ml (12 oz)

      0

      800

      8.1

      250

      TOTALS

      680 ml (22oz)

      150

      982

      11.5

      466 Kcal (20 Kcal/oz)

      1 Values taken from R.30 and R.39 product manual

      TABLE #16: Current Daily Nutrient Intake for an Older Infant with PKU

      Components1

      Amount

      PHE
      (mg/day)

      TYR
      (mg/day)

      Protein
      (g/day)

      Energy
      (Kcal/day)

      Similac

      65 g

      302

      293

      7

      333

      Phenex 1

      85 g

      0

      1275

      13

      408

      TOTALS

      Water to make 1080 ml
      (36oz)

      302

      1568

      20

      741
      (21 Kcal/oz)

      Per kg

       

      38

      196

      2.5

      93

      1 Values taken from R.30 and R.36 product manual

      TABLE #17: Composition of Infant Formula and Medical Food for an Older Infant with PKU

      Components1

      Amount

      PHE
      (mg)

      TYR
      (mg)

      Protein (gm)

      Energy
      (Kcal)

      Similac

      100 g

      465

      450

      10.7

      510

      Phenex 1

      100 g

      0

      1500

      15

      480

      1 Values taken from R.30 and R.36 product manual

      TABLE #18: Calculation of Daily Nutrient Intake Goals for an Older Infant with PKU

      Components1

      Amount

      PHE
      (mg/day)

      TYR
      (mg/day)

      Protein
      (g/day)

      Energy
      (Kcal/day)

      Similac

      60 g

      279

      270

      6

      306

      Phenex 1

      96 g

      0

      1440

      14.4

      461

      FORMULA TOTALS

      Water to make 1080 ml (36oz)

      279

      1710

      20.4

      767 (21Kcal/oz)

      Dry rice cereal

      2 Tbsp

      34

      20

      0.6

      28

      DIET TOTAL

       

      313

      1730

      21

      795

      Per kg

       

      39

      216

      2.6

      100

      1 Values taken from R.30 and R.36 product manual

      TABLE #19: Sample Menu Introducing Solid Food for an Older Infant with PKU

      Suggested
      Time

      Food

      Portion

      PHE
      (mg)

      Protein
      (g)

      Energy
      (Kcal)

      6 AM

      Formula mixture

      8 oz

      70

      4.8

      179

      9 AM

      Baby food rice cereal, dry

      (mixed with water or formula from 24 hour volume)

      1 Tbsp

      17

      0.3

      14

      Applesauce, baby food

      1 Tbsp

      0

      0

      8

      11 AM

      Formula mixture

      8 floz

      70

      4.8

      179

      3 PM

      Formula mixture

      8 floz

      70

      4.8

      179

      6 PM

      Baby food rice cereal, dry

      (mixed with water or formula from 24 hour volume)

      1 Tbsp

      17

      0.3

      14

      Applesauce, baby food

      1 Tbsp

      0

      0

      8

      8 PM

      Formula mixture

      8 floz

      70

      4.8

      179

      TOTALS

      Per day

       

      314

      20

      760

       

      Per kg

       

      39

      2.5

      95

      Values taken from R.30 and R.36 product manual. Totals/day rounded to whole numbers.

      TABLE #20: Recommended Intake of PHE, TYR, Protein and Energy for a Child, Adolescent or Adult with PKU

      After Early Childhood1

      AGE

      PHE2
      (mg/day)

      TYR2
      (mg/day)

      Protein2,3
      (g/day)

      Energy4
      (Kcal/day)

      >4 yr-adult5

      200-1100

      4000-6000

      120-140% DRI for gender and age

      DRI for gender and age

      1 This table is an exerpt of Guideline TABLE #3, Recommended Intakes of PHE, TYR and Protein for PKU. DRI energy recommendations are added and noted with italics. 

      2 Adapted from Acosta (G.102). Range of recommended PHE intake applies to spectrum of PKU severity (mild to severe).

      3 Protein recommendations are for individuals consuming medical foods as the major protein source. Recommended protein intake greater than the DRI is necessary to support normal growth in PKU.

      4 From R.32

      5 PHE tolerance is usually stabilized by 2-5 years of age (F.2627). Recommendations are based on size (increases with age) and growth rate (decreases with age). Individual PHE intake recommendations should be adjusted based on frequent blood PHE monitoring.

      TABLE #21: DRI Ranges for Recommended Intake of Protein and Energy for Childhood through Adulthood by Gender and Age

      After Early Childhood 1

      Protein

      Energy

      Age
      (yrs)

      120-140% DRI for Protein2
      (g/day)

      Age
      (yrs)

      DRI for Energy
      (Kcal/day)

      4 to <9

      23-27

      4 to <7

      1300-2300

       

      7 to <11

      1650-3300

      Male

      9 to <13

      41-48

      11 to <15

      2000-3700

      14 to <19

      62-73

      15 to <19

      2100-3900

      >19

      67-78

      >19

      2000-3300

      Female

      9 to <13

      41-48

      11 to <15

      1500-3000

      >14

      55-64

      15 to >19

      1200-3000

       

      >19

      1400-2500

      1 Adapted from Acosta (G.102) and R.32. Summarized for PKU Toolkit for easy calculations from reference ranges. Refer to publications for more detail. Note: Age ranges differ for protein and energy recommendations.

      2 Protein recommendations are for individuals consuming medical foods as the major protein source. Recommended protein intake greater than the DRI is necessary to support normal growth in PKU.

      TABLE #22: Composition of Medical Food for a Child with PKU

      Components1

      Amount

      PHE
      (mg)

      TYR
      (mg)

      Protein
      (gm)

      Energy
      (Kcal)

      PeriflexJr Plus (unflavored)

      100 g

      0

      2660

      28

      385

      Periflex LQ

      1 pouch (250ml)

      0

      1730

      15

      160

      1 Values taken from R.30 and R.39 product manual

      TABLE #23: Calculation of Nutrient Intake Goals for a Child with PKU

      Components1

      Amount

      PHE
      (mg)

      TYR
      (mg)

      Protein
      (gm)

      Energy
      (Kcal)

      PeriflexJrPlus

      100 g

      0

      2660

      28

      385

      Medical Food Totals

      Water to make 600 ml (20 oz)

      0

      2660

      28

      385

      Food

       

      300

      varies

      6

      varies

      TOTALS

       

      300

      varies

      34

      varies

      OR when away from home: Periflex LQ is may be taken while away from home. When Periflex LQ is taken, amount of PeriflexJr Plus is reduced to 50 g/day. Nutrients contributed are unchanged.

      PeriflexJr Plus

      50 g

      0

      1330

      14

      193

      Periflex LQ

      1 pouch (250 ml)

      0

      1730

      15

      160

      Food

       

      300

      Varies

      6

      varies

      TOTALS

       

      300

      varies

      35

      varies

      1 Values taken from R.30 and R.38 product manual

      TABLE #24: Sample Menu for a Child with PKU Eating Lunch at School
       

      Portion

      PHE
      (mg)

      Protein
      (gm)

      Energy
      (Kcal)

      BREAKFAST

          

      Country Sunrise blueberry muffin

      1

      15

      0.4

      190

      Margarine

      2 tsp

      0

      0

      90

      So Delicious coconut milk yogurt, strawberry

      6 oz

      28

      0.6

      130

      Periflex Junior Plus

      5 oz.

      0

      7.0

      96

      LUNCH

          

      CBF Homestyle white bread

      2 slices

      10

      0.2

      260

      Dietary Specialties peanut butter spread

      2 Tbsp

      8

      0.1

      230

      Grape jelly

      1 Tbsp

      1

      0.1

      56

      Green beans (school lunch item)

      ½ cup

      34

      0.9

      18

      Applesauce (school lunch item)

      ½ cup

      6

      0.5

      97

      Periflex LQ-orange creme

      1 box

      0

      15.0

      160

      SNACK

          

      Rice Krispie treat

      1 bar

      26

      0.6

      90

      Powerade Zero

      8 fl. oz

      0

      0

      0

      DINNER

          

      Aproten spaghetti noodles

      1 oz dry

      9

      0.3

      100

      Prego, Tomato & Basil sauce

      ½ cup

      61

      2.1

      110

      Carrots, cooked

      ½ cup

      14

      0.4

      18

      Periflex Junior Plus

      5 oz

      0

      7.0

      96

      SNACK

          

      Pop Secret 94% fat free butter popcorn

      1 ½ cup

      83

      1.2

      180

      TOTALS

       

      295

      36

      1921

      Values taken from R.30 and R.38 product manual. Totals rounded to whole numbers.

      TABLE #25: Monitoring Nutritional Management of PKU in a Young Child

      Domain Measures1

      Children
      (1 to <8 yrs)

      Assessment of Clinical Status

      Nutrition visit in clinic

      (dietary intake and nutrient analysis2, nutrition-related physical findings, nutrition counseling, diet education)

      Monthly to every 6 months

      Interim nutrition contact

      (diet adjustment based on blood PHE and TYR, or counseling at clinic or by phone/electronic communication)

      Weekly to monthly

      Anthropometrics3

      (weight, length or height, weight for length or BMI, head circumference through 36 months and as indicated)

      At every clinic visit

      Quality of life (QoL)4

      Yearly

      Neurocognitive testing5

      As appropriate for age

      Assessment of Biochemical Status (Routine)

      PHE

      (plasma, serum, or whole blood)6

      Weekly to monthly

      TYR

      (plasma, serum, or whole blood)6

      Weekly to monthly

      Complete amino acid profile6

      At every clinic visit

      Transthyretin (prealbumin)

      6-12 months

      Albumin or total protein

      6-12 months or as indicated

      Complete blood count

      6-12 months

      Ferritin

      6-12 months

      Vitamin D 25-OH

      6-12 months

      Assessment of Biochemical Status (Conditional)7

      Comprehensive metabolic panel, serum vitamin B12, erythrocyte folate, zinc, copper, essential fatty acids

      Yearly or as indicated

      Assessment of Bone Density

      DXA scan (Dual-energy X-ray absorptiometry)

      Every 5 years beginning with baseline at age 5

      1This table is an excerpt of Guideline TABLE #7, Recommendations for Nutrient Intake and Sources in the Dietary Treatment of PKU

      2 Whenever blood PHE is monitored, a mechanism for assessing dietary intake should be in place. MetabolicPro (http://www.metabolicpro.org) is a computer program available for dietary analysis of amino acid-restricted diets.

      3 To evaluate growth: the Centers for Disease Control and Prevention (CDC) recommends the 2006 World Health Organization (WHO) Child Growth Standards for infants from birth to 24 months, and the 2000 CDC Growth Charts for children from 2 to 20 years. Techniques for measurement are described on R.31.

      4 QoL instruments specific for individuals with PKU have not yet been published. Studies using existing QoL instruments to assess individuals with PKU compare outcomes to individuals with other chronic disorders or to control groups (F.1256, F.2348, F.2372, F.2533, F.2555).

      5 See Guideline TABLE #9, Recommendations for Neurocognitive Testing in PKU for neurocognitive testing recommendations

      6 Monitoring protocols may include mail-in blood specimens (using filter paper cards or capillary tubes), or use of local or state public health laboratories, and are optimal for assuring effective monitoring frequency. When plasma amino acid analysis is the only available means of PHE and TYR monitoring, access and cost may limit frequency.

      7 Monitoring is indicated when: nutrition assessment shows poor adherence to prescribed therapy (diet, MF, or pharmacotherapy), incomplete MF is consumed, clinical symptoms of nutritional inadequacy are present (e.g. poor growth), or there is serious intercurrent illness. If laboratory values are abnormal, reassessment should be scheduled.

      TABLE #26: Composition of Medical Food for a Young Adult with PKU

      Components1

      Amount

      PHE
      (mg)

      TYR
      (mg)

      Protein
      (gm)

      Energy
      (Kcal)

      PhenylAde 40

      100 g

      0

      3780

      40

      330

       

      1 envelope (25g)

      0

      950

      10

      83

      LoPhlex LQ

      1 pouch (125 ml)

      0

      1880

      20

      116

      1 Values taken from R.30 and R.38 product manual

      TABLE #27: Calculation of Dietary Intake for the Young Adult with PKU

      Components1

      Amount

      PHE
      (mg)

      TYR
      (mg)

      Protein
      (gm)

      Energy
      (Kcal)

      PREVIOUS INTAKE

      PhenylAde 40

      4-6 pouches

      0

      3800-5700

      40-60

      332-498

      Food

       

      ≈700-900+

      varies

      14-18

      varies

      TOTALS

       

      700-900+

      varies

      20

      varies

      INTAKE AFTER MEDICAL FOOD CHANGE

      PhenylAde 40

      4 pouches

      0

      3800

      40

      332

      LoPhlex LQ

      2 pouches

      0

      3760

      40

      232

      Food

       

      ≈700-900+

      varies

      14-18

      varies

      TOTALS

       

      700-900+

      varies

      94-98

      varies

      1 Values taken from R.30 and R.38 product manual

      TABLE #28: Sample Menu for a Young Adult with PKU Transitioning to Self Care
       

      Portion

      PHE
      (mg)

      Protein
      (gm)

      Energy
      (Kcal)

      BREAKFAST

      Strawberries

      ½ cup

      7

      0.3

      12

      Cool Whip

      4 Tbsp

      13

      0.3

      50

      Waffles, frozen

      2

      205

      4.8

      206

      Cranberry apple juice

      8 floz

      3

      0.3

      170

      PhenylAde 40

      1 pouch

      0

      10.0

      83

      SNACK-at school

      PhenylAde 40

      1 pouch

      0

      10.0

      83

      LUNCH at school

      French fries, fast food

      1 large

      180

      5.8

      527

      Ketchup

      3 packets

      7

      0.3

      30

      Romaine salad

          

      Romaine lettuce

      2 cups

      61

      1.2

      16

      Cherry tomatoes

      ½ cup

      20

      0.7

      13

      Onion, thin slice

      1

      3

      0.1

      2

      Salad dressing, Italian

      2 Tbsp

      3

      0.1

      71

      Pineapple chunks

      ½ cup

      17

      0.5

      41

      SNACK after school

      PKULoPhlex

      2 pouches

      0

      40.0

      232

      Lemon pudding, Hunts ready to eat

      5 oz cup

      6

      0.1

      178

      Wise Onion Rings

      1 oz bag

      13

      0.3

      70

      DINNER

      Aproten spaghetti noodles

      2oz dry

      18

      0.6

      200

      Prego, Tomato & Basil sauce

      ½ cup

      61

      2.1

      110

      Green beans

      ½ cup

      34

      0.9

      18

      So Delicious coconut milk yogurt, vanilla

      4 oz

      0

      0

      90

      PhenylAde 40

      1 pouch

      0

      10.0

      83

      SNACK

          

      PhenylAde 40

      1 pouch

      0

      10.0

      83

      Popcorn, microwave butter flavor

      2 cups

      67

      1.4

      85

      TOTALS

       

      715

      100

      2453

      Values taken from R.30 and R.38 product manual. Totals rounded to whole numbers.

      TABLE #29: Monitoring Nutritional Management of PKU in the Older Child, Adolescent and Adult

      Domain Measures1

      Children and Adults
      (8-18yrs)

      Adults

      Assessment of Clinical Status

      Nutrition visit in clinic

      (dietary intake and nutrient analysis2, nutrition-related physical findings, nutrition counseling, diet education)

      Every 6-12 months

      Every 6-12 months

      Interim nutrition contact

      (diet adjustment based on blood PHE and TYR, or counseling at clinic or by phone/electronic communication)

      Weekly to monthly

      Monthly

      Anthropometrics3

      (weight, length or height, weight for length or BMI, head circumference through 36 months and as indicated)

      At every clinic visit

      At every clinic visit

      Quality of life (QoL)4

      Yearly

      Yearly

      Neurocognitive testing5

      As appropriate for age

      As appropriate for age

      Assessment of Biochemical Status (Routine)

      PHE

      (plasma, serum, or whole blood)6

      Weekly to monthly

      Monthly

      TYR

      (plasma, serum, or whole blood)6

      Weekly to monthly

      Monthly

      Complete amino acid profile6

      At every clinic visit

      At every clinic visit

      Transthyretin (prealbumin)

      6-12 months

      6-12 months

      Albumin or total protein

      6-12 months or as indicated

      6-12 months or as indicated

      Complete blood count

      6-12 months

      6-12 months

      Ferritin

      6-12 months

      6-12 months

      Vitamin D 25-OH

      6-12 months

      6-12 months

      Assessment of Biochemical Status (Conditional)7

      Comprehensive metabolic panel, serum vitamin B12, erythrocyte folate, zinc, copper, essential fatty acids

      Yearly or as indicated

      Yearly or as indicated

      Assessment of Bone Density

      DXA scan(Dual-energy X-ray absorptiometry)

      Every 5 years

      Every 5 years

      1This table is an excerpt of Guideline TABLE #8, Monitoring Nutritional Management of PKU

      2 Whenever blood PHE is monitored, a mechanism for assessing dietary intake should be in place. R.30 is a computer program available for dietary analysis of amino acid-restricted diets.

      3 To evaluate growth: the Centers for Disease Control and Prevention (CDC) recommends the 2006 World Health Organization(WHO) Child Growth Standards for infants from birth to 24 months, and the 2000 CDC Growth Charts for children from 2 to 20 years. Techniques for measurement are described on R.31

      4 QoL instruments specific for individuals with PKU have not yet been published. Studies using existing QoL instruments to assess individuals with PKU compare outcomes to individuals with other chronic disorders or to control groups (F.1256, F.2348, F.2372, F.2533, F.2555).

      5 See Guideline TABLE #9, Recommendations for Neurocognitive Testing in PKU.

      6 Monitoring protocols may include mail-in blood specimens (using filter paper cards or capillary tubes), or use of local or state public health laboratories, and are optimal for assuring effective monitoring frequency. When plasma amino acid analysis is the only available means of PHE and TYR monitoring, access and cost may limit frequency.

      7 Monitoring is indicated when: nutrition assessment shows poor adherence to prescribed therapy (diet, MF, or pharmacotherapy), incomplete MF is consumed, clinical symptoms of nutritional inadequacy are present (e.g. poor growth), or there is serious intercurrent illness. If laboratory values are abnormal, reassessment should be scheduled.

      TABLE #30: Sample menu for a Young Adult with PKU Transitioning to Self Care with a Simplified Diet

      NOTE: counted foods are in bold italics

      Portion

      PHE
      (mg)

      Protein
      (gm)

      Energy
      (Kcal)

      BREAKFAST

      Strawberries

      ½ cup

      7

      0.3

      12

      Cool Whip

      4 Tbsp

      13

      0.3

      50

      Waffles, frozen

      2

      205

      4.8

      206

      Cranberry apple juice

      8 floz

      3

      0.3

      170

      PhenylAde 40

      1 pouch

      0

      10.0

      83

      SNACK at school

      PhenylAde 40

      1 pouch

      0

      10.0

      83

      LUNCH at school

      French fries, fast food

      1 large

      180

      5.8

      527

      Ketchup

      3 packets

      7

      0.3

      30

      Romaine salad:

          

              Romaine lettuce

      2 cups

      61

      1.2

      16

              Cherry tomatoes

      ½ cup

      20

      0.7

      13

              Onion, thin slice

      1

      3

      0.1

      2

              Salad dressing, Italian

      2 Tbsp

      3

      0.1

      71

      Pineapple chunks

      ½ cup

      17

      0.5

      41

      SNACK after school

      PKU LoPhlex

      2 pouches

      0

      40.0

      232

      Lemon pudding, Hunts ready to eat

      5 oz cup

      6

      0.1

      178

      Wise Onion Rings

      1 oz bag

      13

      0.3

      70

      DINNER

      Aproten spaghetti noodles

      2oz dry

      18

      0.6

      200

      Prego, Tomato & Basil sauce

      ½ cup

      61

      2.1

      110

      Green beans

      ½ cup

      34

      0.9

      18

      So Delicious coconut milk yogurt, vanilla

      4 oz

      0

      0

      90

      PhenylAde 40

      1 pouch

      0

      10.0

      83

      SNACK at home

      PhenylAde 40

      1 pouch

      0

      10.0

      83

      Popcorn, microwave butter flavor

      2 cups

      67

      1.4

      85

      TOTALS without simplified counting

       

      715

      100

      2453

      FOOD TOTALS with simplified counting

       

      452

      12

      varies

      Values taken from R.30 and R.38 product manual. Totals rounded to whole numbers.

      TABLE #31: Composition of Medical Food for a Child with PKU Before Taking Sapropterin

      Components1

      Amount

      PHE
      (mg)

      TYR
      (mg)

      Protein
      (gm)

      Energy
      (Kcal)

      Phenex 2

      100 g

      0

      3000

      30

      410

      1 Values taken from R.30 and R.36 product manual

      TABLE #32: Calculation of Daily Nutrient Intake Goals for a Child with PKU Before Taking Sapropterin

      Components1

      Amount

      PHE
      (mg)

      TYR
      (mg)

      Protein
      (gm)

      Energy
      (Kcal)

      Phenex 2

      130 g

      0

      3900

      39

      533

      Food

       

      240

      varies

      5

      varies

      TOTALS

       

      240

      varies

      44

      varies

      1 Values taken from R.30 and R.36 product manual

      TABLE #33: Baseline Blood PHE and PHE Intake for a Child with PKU Before Taking Sapropterin

      Week

      Blood PHE
      (
      µmol/L)

      PHE intake
      (mg)

      MF Protein intake
      (gm)

      1

      480

      400

      39

      2

      600

      430

      39

      3

      750

      550

      39

      TABLE #34: Blood PHE and Dietary PHE Intake for a Child with PKU During a Trial of Sapropterin

      Week

      Blood PHE
      (µmol/L)

      PHE intake
      (mg)

      MF Protein intake
      (gm)

      1

      350

      600

      39

      2

      240

      410

      39

      3

      72

      300

      39

      4

      132

      450

      39

      TABLE #35: Calculation of Daily Nutrient Intake Goals for a Child with PKU While Taking Sapropterin

      Components1

      Amount

      PHE
      (mg)

      TYR
      (mg)

      Protein
      (gm)

      Energy
      (Kcal)

      Camino-Pro Restore 10

      2 bottles (500 ml)

      32

      600

      20

      364

      Food

       

      1000

      varies

      20

      varies

      TOTALS

       

      1032

      varies

      40

      340 from MF

      1 Values taken from R.30 and R.35 product manual

      TABLE #36: Sample Menu Liberalized for a child with PKU While Taking Sapropterin
       

      Portion

      PHE1
      (mg)

      Protein1
      (gm)

      Energy1
      (Kcal)

      BREAKFAST

      Camino-Pro Restore 10

      1 bottle

      16

      10.0

      182

      Froot-Loops

      1 cup

      71

      1.5

      109

      Strawberries, raw

      1 cup

      16

      0.6

      27

      LUNCH

          

      Grilled cheese sandwich

          

      White bread

      2 slices

      240

      4.9

      158

      American cheese

      1 oz slice

      266

      5.1

      104

      Margarine

      1 tsp

      4

      0.1

      69

      Watermelon, raw

      1 wedge

      43

      1.7

      86

      Instant tea, with sugar

      1 glass

      0

      0.1

      89

      SNACK

      Camino-Pro Restore 10

      1 bottle

      16

      10.0

      182

      Lemon pudding, Hunts ready to eat

      5 oz cup

      6

      0.1

      178

      DINNER

      Burger King French fries

      1 large

      234

      5.2

      448

      Salad

          

      Lettuce, iceberg

      1 cup

      13

      0.5

      8

      Tomato, raw

      1 wedge

      8

      0.3

      6

      TOTALS

       

      953

      40

      1814

      1 Values taken from R.30 and R.35 product manual. Totals rounded to whole numbers.

      TABLE #37: Recommended Intakes of PHE, TYR, Protein and Energy in Pregnancy for a Woman with PKU

      Pregnancy and Lactation1,2

      Age

      PHE
      (mg/day)

      TYR
      (mg/day)

      Protein3
      (g/day)

      Energy4
      (Kcal/day)

      Trimester 1

      265-770

      6000-7600

      > 70

      2000-3500

      Trimester 2

      400-1650

      6000-7600

      > 70

      2000-3500

      Trimester 3

      700-2275

      6000-7600

      > 70

      2000-3500

      Lactation5

      700-2275

      6000-7600

      > 70

      2000-3500

      1This table is an excerpt of  Guideline TABLE #3, Recommended Intakes of PHE, TYR and Protein for PKU. DRI energy recommendations are added and noted with italics. 

      2 Adapted from Acosta (G.102). TYR intake recommendations may require adjustment based on blood TYR monitoring. Evidence shows that DRI's for age are appropriate for individuals with PKU. Recommendations are slightly higher for pregnant women ≤19 years of age.

      3 Protein recommendations are for individuals consuming medical foods as the major protein source.

      4 From R.32

      5 Recommended nutrient intake during lactation is the same as for third trimester of pregnancy.

      TABLE #38: Composition of Medical Food in Pregnancy for a Woman with PKU

      Components1

      Amount

      PHE
      (mg)

      TYR
      (mg)

      Protein
      (gm)

      Energy
      (Kcal)

      PKU Cooler 20

      1 pouch (174 ml)

      0

      2380

      20

      124

      PKU Cooler 15

      1 pouch (130 ml)

      0

      1780

      15

      92

      1 Values taken from R.30 and R.37 product manual

      TABLE #39: Calculation of Daily Nutrient Intake Goals in Early Pregnancy for a Woman with PKU

      Components1

      Amount

      PHE
      (mg)

      TYR
      (mg)

      Protein
      (gm)

      Energy
      (Kcal)

      PKU Cooler 20

      4 pouches

      0

      9520

      80

      496

      Food

       

      250

      varies

      5

      varies

      TOTALS

       

      250

      varies

      85

      496 from MF

      OR

      PKU Cooler 15

      5 pouches

      0

      8900

      75

      460

      Food

       

      250

      varies

      5

      varies

      TOTALS

       

      250

      varies

      80

      460 from MF

      1 Values taken from R.30 and R.37 product manual

      TABLE #40: Sample Menu for a Woman with PKU in Early Pregnancy
       

      Portion

      PHE1
      (mg)

      Protein1
      (gm)

      Energy1
      (Kcal)

      BREAKFAST

          

      Apple

      ½

      4

      0.2

      39

      So Delicious Coconut yogurt

      4 oz

      0

      0

      90

      Corn Pops

      1 cup

      83

      1.2

      123

      Cranberry apple juice

      8 floz

      3

      0.3

      170

      PKU Cooler 20

      1 pouch

      0

      20.0

      124

      SNACK

          

      Grapes

      10

      9

      0.4

      34

      LUNCH

          

      Low protein grilled cheese sandwich

          

      Low protein bread, Cambrooke

      2 slices

      9

      0.2

      260

      Low protein American cheese, Cambrooke

      1 slice

      20

      0.4

      35

      Salad

          

      Lettuce

      ½ cup

      3

      0.2

      10

      Tomato

      2 slices

      8

      0.3

      5

      Italian salad dressing

      2 Tbsp

      3

      0.1

      71

      PKU Cooler 20

      1 pouch

      0

      20.0

      124

      SNACK

          

      Cranberry apple juice

      8 floz

      3

      0.3

      170

      DINNER

          

      Low protein pasta, Dietary Specialties

      ½ cup

      7

      0.2

      210

      Zucchini sautéed in olive oil with garlic

      ½ cup

      20

      1.0

      217

      Shake N' Cheese, Cambrooke

      2 tsp

      11

      0.2

      20

      PKU Cooler20

      1 pouch

      0

      20.0

      124

      SNACK

          

      Sorbet, strawberry

      ½ cup

      12

      0.5

      114

      Vanilla wafers

      4

      42

      0.8

      74

      PKU Cooler 20

      1 pouch

      0

      20.0

      124

      TOTALS

       

      237

      86

      2137

      Values taken from R.30, R.37 and R.35 product manuals. Totals are rounded to whole numbers.

      TABLE #41: Recommendations for Healthy Weight Gain During Pregnancy

      Pre-pregnancy

      Total weight gain
      (kg)

      Rate of weight gain (kg/wk)

      First Trimester

       

      0.5-2

      n/a

      Second and Third Trimester

      Underweight (BMI <18.5)

      13-18

      0.5

      Normal weight (BMI 18.5-24.9)

      11-16

      0.5

      Overweight (BMI 25-29.9)

      7-11

      0.3

      Obese (BMI >30)

      5-9

      0.2

      Adapted from Institute of Medicine report: Weight gain during pregnancy: reexamining the guidelines (L.193).                            

      TABLE #42: Monitoring Nutritional Management of PKU During Pregnancy and Lactation

      Domain Measures1

      Planning Pregnancy or Pregnant

      Postpartum and Lactation

      Assessment of Clinical Status

       

      Nutrition visit in clinic

      (dietary intake and nutrient analysis2, nutrition-related physical findings, nutrition counseling, diet education)

      Monthly to per trimester

      At 6 weeks postpartum, then every 6 months

      Interim nutrition contact

      (diet adjustment based on blood PHE and TYR, or counseling at clinic or by phone/electronic communication)

      Once to twice weekly

      Weekly to monthly

      Anthropometrics

      (weight and other obstetrics parameters)

      At every clinic visit

      At every clinic visit

      Quality of life (QoL)3

      Yearly

      Yearly

      Neurocognitive testing4

      As appropriate for age

      As appropriate for age

      Assessment of Biochemical Status (Routine)

       

      PHE

      (plasma, serum, or whole blood)5

      Once to twice weekly

      Once to twice weekly

      TYR

      (plasma, serum, or whole blood)5

      Twice weekly to weekly

      Twice weekly to weekly

      Complete amino acid profile5

      Weekly to monthly

      Weekly to monthly

      Transthyretin (prealbumin)

      Monthly to per trimester

      Monthly to per trimester

      Albumin or total protein

      Per trimester

      Per trimester

      Complete blood count

      Per trimester

      Per trimester

      Ferritin

      Per trimester

      Per trimester

      Vitamin D 25-OH

      Per trimester

      Per trimester

      Assessment of Biochemical Status (Conditional)6

       

      Comprehensive metabolic panel, serum vitamin B12, erythrocyte folate, zinc, copper, essential fatty acids

      At first visit and then as indicated

      Yearly or as indicated

      1 This table is an excerpt of Guideline TABLE #8, Monitoring Nutritional Management of PKU

      2 Whenever blood PHE is monitored, a mechanism for assessing dietary intake should be in place. R.30 is a computer program available for dietary analysis of amino acid-restricted diets.

      3 QoL instruments specific for individuals with PKU have not yet been published. Studies using existing QoL instruments to assess individuals with PKU compare outcomes to individuals with other chronic disorders or to control groups (F.1256, F.2348 , F.2372 , F.2533, F.2555).

      4 See Guideline TABLE #9, Recommendations for Neurocognitive Testing in PKU.

      5 Monitoring protocols may include mail-in blood specimens (using filter paper cards or capillary tubes), or use of local or state public health laboratories, and are optimal for assuring effective monitoring frequency. When plasma amino acid analysis is the only available means of PHE and TYR monitoring, access and cost may limit frequency.

      6 Monitoring is indicated when: nutrition assessment shows poor adherence to prescribed therapy (diet, MF, or pharmacotherapy), incomplete MF is consumed, clinical symptoms of nutritional inadequacy are present (e.g. poor growth), or there is serious intercurrent illness. If laboratory values are abnormal, reassessment should be scheduled.

      TABLE #43: Sample Menu for a Woman with PKU in Late Pregnancy
       

      Portion

      PHE
      (mg)

      Protein
      (gm)

      Energy
      (Kcal)

      BREAKFAST

          

      Strawberries

      ½ cup

      7

      0.3

      12

      Cool Whip

            4Tbsp

      13

      0.3

      50

      Waffles, frozen

      2

      205

      4.8

      206

      Cranberry apple juice

      8 floz

      3

      0.3

      170

      Glytactin RTD 15

      1 carton

      27

      15.0

      200

      SNACK

          

      Low protein blueberry muffin, Maddy's

      2

      14

      0.6

      263

      Butter

      2 tsp

      4

      0.1

      72

      PKU Cooler 15

      1 pouch

      0

      15.0

      92

      LUNCH

      Pizza, low protein, Cambrooke

      1

      44

      1.0

      300

      Cole slaw

      ½ cup

      28

      0.8

      47

      Fruit salad

      (cantaloupe, honeydew, pineapple ½cup each)

      1 ½ cup

      48

      1.6

      99

      Glytactin RTD 15

      1 carton

      27

      15.0

      200

      SNACK

          

      Wise Onion Rings

      1 oz

      13

      0.3

      70

      PKU Cooler 15

      1 pouch

      0

      15.0

      92

      DINNER

      French fries, fast food

      1 large

      180

      5.8

      527

      Ketchup

      3 packets

      7

      0.3

      30

      Romaine salad

      (romaine 2 cups, mushrooms ¼ cup, tomato ½

      cup, onion)

      3 cups

      94

      2.3

      31

      Salad dressing, Italian

      2 Tbsp

      3

      0.1

      71

      PKU Cooler 15

      1 pouch

      0

      15.0

      92

      SNACK

      Popcorn, microwave butter flavor

      2 cups

      67

      1.4

      85

      PKU Cooler 15

      1 pouch

      0

      15.0

      92

      TOTALS

       

      784

      110

      2801

      Values taken from R.30 and R.37 and R.35 product manuals. Totals are rounded to whole numbers.

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