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MSUD Nutrition Management Guidelines
First Edition
February 2013, v.1.55
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Updated: June 2021
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List of Tables
TABLE #1: MSUD Phenotypes

Phenotype

Clinical Symptoms

(prior to treatment)

Biochemical

% BCKD activity

Classical

Neonatal onset, poor feeding, lethargy, altered tone, ketoacidosis, seizures. Symptoms often present prior to learning NBS results. Prenatal testing in at-risk siblings can allow dietary intervention at birth. Nearly all due to mutations in the E1 BCKD subunits

↑↑ allo-ILE, BCAA, BCKA

0 -2

Intermediate

Failure to thrive, ketoacidosis and developmental delay; classical symptoms can occur during catabolic illness/stress

↑ allo-ILE, BCAA, BCKA

3 - 30

Intermittent

Normal early development, episodic ataxia/ketoacidosis, severe symptoms may be precipitated by catabolic illness/stress. May be missed by MS/MS NBS

Normal BCAA, BCKA when asymptomatic

5 - 20

Thiamin (B1) responsive

Similar to intermediate. Often due to mutations in E2 BCKD subunit

↑ allo-ILE, BCAA, BCKA ↓BCKA and/or BCAA with thiamin therapy

2 - 40

Lipamide dehydrogenase deficiency

Normal neonatal period, failure to thrive, hypotonia, lactic acidosis, developmental delay, movement disorder. Due to mutations in the E3 BCKD subunit - a component of both pyruvate dehydrogenase and α-ketoglutarate dehydrogenase

Moderate BCAA and BCKA,  ↑α-ketoglutarate, pyruvate

0 - 25

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TABLE #2: Laboratory and Clinical Findings for Classical MSUD

Laboratory test/symptom

Symptomatic

Pre-symptomatic/treated

MS/MS NBS on blood spot

↑↑BCAA, especially LEU;

LEU:PHE ratio > 4.5-5

<24 hr of age : normal or slight ↑BCAA;

> 24 hr of age : slight ↑to ↑BCAA

Treated in good control: normal or slight ↑BCAA

Plasma amino acids

↑↑BCAA (especially LEU), allo-ILE present; without TX, VAL and ILE may become normal or low. As LEU increases, see decreases in other essential and non-essential AA

normal or slight ↑BCAA; allo-ILE present

Urine DNPH Rx

++ after day 2-3 of life

-

Urine organic acid analysis

↑BCKA

normal or slight ↑

Ketonuria (urine keto sticks)

++

-

Ammonia

May be ↑ or ↑↑

-

BCKD activity

0-3%

0-3%

Blood glucose

↓ or normal

normal

Weight

↓

normal

Lethargy, intermittent apnea, opisthotonus

+

-

Maple syrup odor (in urine)

+ usually by 72+ hr, (first apparent in cerumen by 12-24 hr)

-

Irritability, poor feeding

+

-

Vomiting

+

-

Ataxia

+

-

Visual hallucinations

+

-

Coma, respiratory failure by 7-10 days of life without treatment

+

-

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TABLE #3: Nutrient Recommended Intake and Sources in the Dietary Treatment of Well Individuals with MSUD

Nutrient

Recommendation

Source

LEU

Sufficient intake to allow adequate protein synthesis for growth, repair and health maintenance and to achieve LEU levels in recommended treatment range.

LEU allowance is also dependent on residual BCKD activity, age, weight, sex, life stage and health of the individual with MSUD.

In the newborn, the recommended intake is: 40-100 mg LEU/kg/day

  • Intact protein (PRO)

In infants: breast milk or infant formula with known LEU content

In children and adults: foods such as fruits/vegetables, some grains/cereals that are typically low in protein and for which there is known LEU content

PRO

DRI 1

Plus additional 20-40% if an amino acid-based medical food is used

  • Intact PRO (as above)
  • BCAA-free medical food

VAL, ILE

VAL and ILE are essential amino acids and may need to be supplemented when BCAA are restricted to achieve appropriate LEU blood levels. To promote anabolism of LEU, when LEU blood levels are high, additional supplementation of VAL and ILE is often required

  • Intact PRO
  • Supplemental VAL, ILE2

KCAL

DRI 1

  • Intact PRO
  • BCAA-free medical food
  • Free foods 3
  • Modified low PRO food 4

Other nutrients, minerals and vitamins 5

DRI 1

  • Intact PRO
  • BCAA-free medical food
  • Supplemental nutrients, vitamins and minerals 6

1 For age, size, sex, and life stage. Requirements change with catabolic illness/conditions

2 1% solutions are convenient for adding to the medical food when supplementation is necessary

3 Free foods contain little or no detectable PRO/BCAA and consist mostly of sugars, pure starches and/or fats

4 Modified low-protein foods include pastas and baked goods where higher protein grains/flours are replaced by protein-free starches

5 Included are essential fatty acids and DHA, Vit D, Vit A, Ca, Fe, Zn, Se

6 Most BCAA-free medical foods are supplemented sufficiently with the nutrients and micronutrients that may be deficient in a diet low in BCAA. Compliance with taking the full medical food prescription is important in meeting these nutrient requirements. In addition, there are some medical foods that have been modified to improve taste, decrease KCAL or volume in order to increase compliance that may have insufficient supplementation of some micronutrients, vitamins and minerals

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TABLE #4: Recommended Dietary PRO, BCAA and Energy Intake

AGE/

STAGE

NUTRIENT

LEU 1,2

mg/kg

Approximate

Intact PRO5

g/kg

ILE2,3,4

mg/kg

VAL2,3,4

mg/kg

Total PRO6 g/kg

ENERGY7 kcal/kg

INFANTS TO < 4 yr (classical to mild MSUD)

0 - <3 mo

60-100

1.0-1.6

36-100

40-95

2.5-3.0

118-130

>3 - <6 mo

50-85

0.8-1.4

30-80

35-90

2.0-3.0

102-111

>6 - <12 mo

35-70

0.6-1.2

25-70

30-80

2.0-2.5

100-107

≥1 - <4 yr

25-55

0.4-0.9

20-60

25-70

1.5-2.1

105-114

AGE/

STAGE

AFTER EARLY CHILDHOOD (classical MSUD)

LEU2

mg per day

Intact PRO5

g per day

ILE3,4

mg per day

VAL3,4

mg per day

Total PRO6 g

ENERGY

kcal

>4 yr

275-500

5.0 - 8.0

250-450

325-500

120% DRI8

DRI8

AGE/

STAGE

PREGNANCY9,10 and POSTPARTUM (classical MSUD)

LEU3

mg per day

Intact PRO5

g per day

ILE3,4

mg per day

VAL3,4

mg per day

Total PRO6

g/day

ENERGY

kcal/day

1st trimester10

300 -500

5.0 - 8.0

250-450

325-500

120% DRI

plus 0.5g/d

DRI plus

85 kcal/d

2nd trimester

600-1000

10 - 16

400-800

~600-1000

~120 % DRI

plus 7.7g/d

DRI plus

285 kcal/d

3rd trimester

800-2000

13 - 33

650-1200

800-1800

120% DRI

plus 25g/d

DRI plus

375 kcal /d

Postpartum

If not breast feeding, return to pre-pregnancy intake 11

Lactation

Intake while breastfeeding should be approximately the same as in the 3rd trimester

Sources: G.43; G.50; G.39; F.426; F.3481; F.102; F.3482; F.3483, Nominal Group summary and Delphi Surveys

1 For individuals with classical MSUD, especially in infancy, use of LEU content of foods/infant formulas is more accurate than relying of the rounded PRO content.

2 Individuals with "classical MSUD" tolerate BCAA and intact PRO intake at the lower end of the range.

3 Actual intake should be guided and adjusted based on results from plasma amino acid and anthropometric monitoring.

4 Source(s) of VAL and ILE are from intact PRO and possible supplementation of (the individual) amino acids.

5 Estimated from a mixed diet to be approximately 60mg LEU per gram intact PRO

6 Combination of intact PRO (providing the increased requirements for BCAA) and PRO equivalents from amino acid-based medical food

7 Energy intake recommendations from birth to <4 years are derived from the Human Energy Requirements Report of a Joint FAO/WHO/UNU Expert Consultation 2001 for the general public - see: http://www.fao.org/3/a-y5686e.pdf with an additional 10% added for those individuals who obtain the majority of their protein calories from amino acids (G.50)

8 DRI (Daily Intake Requirements) are based on age, sex, activity level and BMI - see:

https://fnic.nal.usda.gov/dietary-guidance/dri-nutrient-reports/energy-carbohydrate-fiber-fat-fatty-acids-cholesterol-protein.

9 Women who are < 19 years of age and women having multiple births have higher nutrient requirements

10 Women may need to adjust their current intake to meet appropriate plasma levels of the BCAA if diet was not being strictly followed at the time of conception. BCAA, PRO and energy needs begin to increase toward the end of the first trimester

11 See MSUD guideline's text for recommendations for the labor/delivery and immediate post-partum periods

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TABLE #5: Nutrition Problem Identification for MSUD based on the International Dietetics and Nutrition Terminology Reference Manual, 3rd Edition

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

Insufficient 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

Underlying Disease Factors

New diagnosis of MSUD

LEU, VAL, and ILE restriction necessary for MSUD 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 and low-protein foods

Lack of medical insurance

Inadequate third-party or denial of coverage for medical foods or low protein foods

Lack of access to resources or care

From Biochemical Tests

Laboratory value compared to norm or goal (specify) (e.g. plasma LEU of 300 µmol/L)

Abnormal plasma amino acids (specify)

Presence of ketones in urine

Positive DNPH test

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 MSUD

EFA deficiency (physical sign or lab value)

From Diet History

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

From Patient Report

Verbalized lack of skill or understanding to implement nutrition recommendations

Lack of appreciation for the importance of making nutrition-related changes

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 MSUD 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.

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TABLE #6: Recommendations for the Nutritional Monitoring of Individuals with MSUD

Domain Measures

Infants
(0- <1 yr)

Children
(1- <8 yrs)

Children
(8-18 yrs)

Adults

Planning Pregnancy or Pregnant

Postpartum and Lactation

Assessment of Clinical Status 2

Physical findings, growth, and laboratory results should be within normal for age, sex, and life stage, except for blood levels of BCAA 5

Nutrition assessment and counseling 

(dietary intake3 and nutrient analysis, nutrition-related physical findings, nutrition counseling, diet education)

Weekly to monthly

Monthly to every 6 months

Every 6 to 12 months

Every 6 to 12 months

Monthly to per trimester

At 6 weeks postpartum, then every 6 months

Interim nutrition contact

(diet adjustment based on blood BCAA levels, 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

Anthropometrics

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

At every clinic visit; include head circumference

At every clinic visit; include head circumference until age 4 years

At every clinic visit

At every clinic  visit

At every clinic visit; include growth of the fetus

At every clinic visit; assess growth of the offspring during lactation

Assessment of Biochemical Status (Monitoring and Routine)4

Leucine

(plasma, serum, or whole blood)5

Daily, until stabilized. Once to twice weekly until 6 months, then weekly

Weekly until 24 months, then monthlyMonthly

Monthly

WeeklyWeekly until 6 weeks postpartum then monthly

Valine, isoleucine, alloisoleucine

(plasma, serum, or whole blood)5

Daily, until stabilized. Once to twice weekly until 6 months, then weekly

Weekly until 24 months, then monthlyMonthlyMonthlyWeeklyWeekly until 6 weeks postpartum then monthly

a-keto acids (or ketones)6

Daily, until stabilized. Once to twice weekly until 6 months, then weeklyWeekly until 24 months, then monthlyMonthlyMonthly

Weekly

Weekly until 6 weeks postpartum then monthly

Amino acids, plasma (full panel)

MonthlyMonthly until 24 months, then every 6 monthsWith every clinic visit/ assessmentWith every clinic visit/ assessmentWith every clinic visit/ assessment

With every clinic visit/ assessment

Transthyretin (prealbumin)

Every 6 monthsEvery 6 monthsWith every clinic visit/ assessmentWith every clinic visit/ assessmentWith every clinic visit/ assessmentWith every clinic visit/ assessment

Albumin

Every 6 monthsEvery 6 monthsWith every clinic visit/ assessmentWith every clinic visit/ assessmentWith every clinic visit/ assessmentWith every clinic visit/ assessment

Complete Blood Count (CBC)

Every 6 monthsEvery 6 months​​​​​​​With every clinic visit/ assessment​​​​​​​With every clinic visit/ assessment​​​​​​​With every clinic visit/ assessment​​​​​​​With every clinic visit/ assessment
FerritinEvery 6 monthsEvery 6 months​​​​​​​With every clinic visit/ assessment​​​​​​​With every clinic visit/ assessment​​​​​​​With every clinic visit/ assessment​​​​​​​With every clinic visit/ assessment

Assessment of Biochemical Status (Conditional)7

When nutritional assessment indicates poor compliance with diet or inadequate medical food consumption, or there has been consumption of an incomplete medical food, clinical signs/symptoms of nutritional inadequacy including poor growth, or serious intercurrent illness or metabolic decompensation, these laboratory indices should be evaluated. If laboratory values are abnormal, reassessment of specific analytes should be scheduled within one month of intervention.

25-OH vitamin D

    In addition, preconceptually or as soon as pregnancy is confirmedIn addition, once in the postpartum period
Vitamin B12    In addition, preconceptually or as soon as pregnancy is confirmedIn addition, once in the postpartum period
RBC essential fatty acids    In addition, preconceptually or as soon as pregnancy is confirmedIn addition, once in the postpartum period
Trace minerals (Zn, Cu, Se)    In addition, preconceptually or as soon as pregnancy is confirmedIn addition, once in the postpartum period
Vitamin A    In addition, preconceptually or as soon as pregnancy is confirmedIn addition, once in the postpartum period
Comprehensive metabolic panel    In addition, preconceptually or as soon as pregnancy is confirmedIn addition, once in the postpartum period
Folic acid8    In addition, preconceptually or as soon as pregnancy is confirmedIn addition, once in the postpartum period
L-carnitine (free, esterified and total)8    In addition, preconceptually or as soon as pregnancy is confirmedIn addition, once in the postpartum period

Radiologic

DEXA scan

(Dual-energy X-ray absorptiometry)

n/a

n/aEvery 3 to 5 years beginning at age 8 years if low vitamin D or frequent fracturesIf low vitamin D or frequent fractures

n/a

n/a
Ultrasoundn/an/an/an/aFirst trimester, 18 to 20 weeks then every 4 weeks until deliveryn/a
Echocardiogram (fetal)n/an/an/an/a18 to 20 weeksn/a

​​​​​​​1 Intervention and monitoring during catabolic illness or at the time of diagnosis is covered in Question1 in the Nutrition Recommendation Section of the Guideline.
2 The recommended frequency of clinical assessments at a metabolic clinic (involving the medical geneticist, metabolic dietitian, social worker, nurse specialist, psychologist, et al.) may not be possible because of travel distance, cost, loss of work days, etc. Coordination with primary care providers, use of telemedicine, and frequent communication by telephone and mail should be employed.
3 A mechanism for assessing dietary intake, whenever BCAA monitoring is done, should be in place.
4 Consensus from the Delphi 1 and 2
5 There are some programs that have monitoring protocols allowing for mail-in samples (using Guthrie cards or small vials) or use of local labs. Such protocols are optimal for increasing the frequency of monitoring.
6 The dinitrophenylhydrazine (DNPH) test is the more accurate test for measuring the branched chain a-ketoacids. If the clinic cannot provide this for home use, then ketosticks are an alternative.
7 There was no consensus from the Delphi 1 and 2 surveys that these tests should be done routinely, but specific circumstances (as listed) may indicate the need for specific tests.
8 Rarely of concern except during pregnancy

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TABLE #7: Classification of Medical Foods for MSUD

Classification1

Complete

No added fat

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

Pro: energy ratio

(PRO g/100kcal)2

Low to medium

Medium to high

High

Forms

Powder, bars

Powder, ready-to-drink

Powder

Products designed for infants

BCAD 17, Ketonex-16, MSUD Analoge

None

None

Products designed for children3

BCAD 27

Complex Junior MSD5 Complex Essential MSD5 Complex MSD Amino Acid Bars10

Ketonex-26

Camino Pro MSUD9

Milupa MSUD 25

MSUD Gel8

MSUD Express 158, MSUD Express 208

MSUD Cooler 158

MSUD Lophlex LQ5

MSUD Maxamaid5

None

Products designed for adolescents and adults4

BCAD 27

Complex Essential MSD5

Complex MSD Amino Acid Bars10

Ketonex-26

Camino Pro MSUD9

Milupa MSUD 25

MSUD Express 158

MSUD Express 208

MSUD Cooler 158

MSUD Lophlex LQ5

MSUD Maxamum5

Complex MSD Amino Acid Blend5a

1. Examples of products available in the U.S. as of August 2014. Inclusion in table does not represent endorsement

2. Energy/Protein ratio categories ((PRO g/100kcal): High: 11-25; Medium 5-10; Low <5

3. Some products not appropriate for children <4 years; check manufacturer’s information for nutrient profile

4. Some products may be used before adolescence, especially if used in combination with other products, depending on clinical circumstances

5. Nutricia North America, Gaithersburg, MD (including Applied Nutrition)

6. Abbott Nutrition, Columbus OH

7. Mead Johnson Nutrition, Evansville IN

8. Vitaflo USA, Alexandria, VA

9 Cambrooke Foods, Ayer, MA

10. Complex MSD Amino Acid Bars have a low PRO: energy ratio but no added vitamins and minerals.

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TABLE #8: Recommended Nutrient Intake for Newborn Infant with MSUD

AGE

INFANTS 0 - <3 mos (classical to mild MSUD)

NUTRIENT

LEU

mg/kg

Approx

Intact PRO

g/kg

ILE

mg/kg

VAL

mg/kg

Total PRO

g/kg

ENERGY

kcal/kg

FLUID

mL/kg

0 - <3 mos

60-100

1-1.6

36-100

40-95

2.5-3.0

118-130

125-160

As there is a range in the recommendations for the BCAA, energy and PRO, monitoring growth, clinical status and biochemical markers is essential when prescribing the nutrient intake for any individual with MSUD. Some individuals may need intakes outside the recommended ranges for optimal outcome.

This table is an excerpt of TABLE #4, Recommended Dietary PRO, BCAA and Energy Intake from the Nutrition Management Guideline for MSUD where more details are provided.

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TABLE #9: Medical Food and Breast Milk Composition for Case 3.1

Components

Amount

LEU mg

Approx
Intact
PRO g

ILE mg

VAL mg

Total

PRO g

Energy

Kcal

Breast milk (mature)

100 mL

100

1.07

58

56

1.07

72

MSUD Analog

100 g

0

000

13

475

Similac Advance

100 g

1080

10.6

575

640

10.6

510

This table is an excerpt of TABLE #7, Classification of Medical Foods for MSUD from the Nutrition Management Guideline for MSUD

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TABLE #10: Calculation of Formula Mix to Meet Recommended Intake for Case 3.1: using breast milk

Components

AMT

LEU mg

Approx
Intact
PRO g

ILE mg

VAL mg

Total
PRO g

Energy

Kcal

Breast milk

266 mL

266

2.85

154

149

2.85

192

MSUD Analog

52 g

0000

6.76

248

Non-PRO energy source

0

0

00000

Supplemental VAL

10.6 mL1

0

00

106

(10.6)0

Supplemental ILE

7.4 mL1

0

0

74

0(7.4)0

Final volume

600 mL

000000

TOTAL

600 mL/ 20 fl oz

266

2.85

228

255

9.6

440

22 kcal/oz

Per kg BW

 700.7560672.5116

1 Derived from 1% solutions containing 10 mg/mL. Alternatively, powders containing 106 mg pure VAL or 74 mg pure ILE can be added during preparation of the formula mix.

Rounding: The above chart provides exact calculations; however, to make it more user-friendly for families, consider rounding the volume of breast milk, medical food and supplemental VAL and ILE to make preparation easier, as in TABLE #11, Rounded Calculation of Formula Mix to Meet Recommended Intake for Case 3.1: using breast milk below. This will not have a significant impact on blood BCAA or nutrient composition of the formula mix. From this point on, case studies will show the rounded values.

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TABLE #11: Rounded Calculation of Formula Mix to Meet Recommended Intake for Case 3.1: using breast milk

Components

Amount

LEU mg

Approx
Intact
PRO g

ILE mg

VAL mg

PRO g

Energy

Kcal

Breast milk

270 mL

270

2.89

157

141

2.89

194

MSUD Analog

55 g

0

000

7.15

261

Non-PRO energy source

0

0

0

0

0

0

0

Supplemental VAL

10 mL

0

00

100 mg

00

Supplemental ILE

7 mL

0

0

70

000

Final volume

600 mL

      

TOTAL

600 mL/ 20 fl oz

270

2.89

227

241

10.0

455

23 kcal/oz

Per kg BW

158 mL

71

.76

60

63

2.6

120

Prepare the mixture as above, and offer 2-3 oz per feeding. Each infant is different and it is important to pay attention to feeding/hunger cues and feed accordingly.

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TABLE #12: Calculation of Formula Mix to Meet Recommended Intake for Case 3.1: using infant formula

Components

Amount1

LEU mg

ILE mg

VAL mg

PRO g

Energy

Kcal

Similac Advance™

25 g

266

144

160

2.7

128

MSUD Analog™

55 g1

000

7.3

266

Non-PRO energy source (ProPhree™)2

10 g

0000

48

Supplemental VAL

8 mL1,3

0

80

000

Supplemental ILE

10 mL 1,3

00

100

00

Final volume

600 mL

     

TOTAL

600 mL (20 fl oz)

266

224

260

10.0

442 kcal

22 Kcal/ oz

Per kg BW

158 mL

70 mg

60 mg

67mg

2.6 g

116 kcal

1 It will not adversely affect outcome to round amounts: e.g,.55 g Analog; 8 mL supplemental VAL; 10 mL supplemental ILE

2 Alternately, the formula mixture can be prepared using 65 g MSUD Analog™, with the additional 10 g of the BCAA-free medical food providing the 48 kcal.

3 1% solutions containing 10 mg/mL. Alternatively, powders containing 80 mg pure VAL or 100 mg pure ILE can be added to the formula mixture

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TABLE #13: Recommended Nutrient Intake for Older Infants with MSUD

AGE/STAGE

INFANTS ≥6 - <12 mo (classical to mild MSUD)

NUTRIENT

LEU

mg/kg

Approx

Intact PRO

g/kg

ILE

mg/kg

VAL

mg/kg

Total PRO

g/kg

ENERGY

kcal/kg

≥6 - <12 mo

35-70

0.6-1.2

25-70

30-80

2.0-2.5

100-107

As there is a range in the recommendations for the BCAA, energy and PRO, monitoring growth, clinical status and biochemical markers is essential when prescribing the nutrient intake for any individual with MSUD. Some individuals may need intakes outside the recommended ranges for optimal outcome. If monitoring results are consistent with good control, dietary modifications such as introduction of solid foods or change in formula mixture should be based on current intake.

This table is an excerpt of TABLE #4, Recommended Dietary PRO, BCAA and Energy Intake from the Nutrition Management Guideline for MSUD where more details are provided.

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TABLE #14: Calculation of Current Nutrient Intake for Case 4.1

Components

Amount

LEU mg

Approx
Intact PRO g

ILE mg

VAL mg

PRO g

Energy

 kcal

Good Start

33 g

378

3.7

190

196

3.7

169

Ketonex-1

105 g

0

0

0

0

15.8

504

Isoleucine 50

2 sachets

0

0

100

0

0.1

31

Valine 50

2 sachets

0

00

100

0.1

31

Water

Add water to make a final volume of 32oz

Total

32 oz/ 960mL

378

3.7

290

296

19.7

735 23 kcal/oz 

Per kg BW

 

47 mg

 0.46 g

36 mg

37 mg

2.5g

92 kcal

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TABLE #15: Introduction of Solids for Case 4.1

Components

Amount

LEU mg

ILE mg

VAL mg

PRO gm

Energy kcal

Good Start™

30 g

344

173

179

3.4

154

Ketonex-1™

105 g

0

0

0

15.8

504

Solid foods, intact PRO

Varies

30

varies

Varies

~0.5

Varies

Isoleucine 50

2 sachets

0

100

0

0.1

31

Valine 50

2 sachets

0

0

100

0.1

31

Total

 

375

291

305

20.0

720 + food

Per kg

 

47 mg

36 mg

38 mg

2.5 g

~95 kcal

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TABLE #16: Sample Menu with Suggested Feeding Schedule for Case 4.1: infant with MSUD starting solids

Suggested Time

Formula or Food

Amount

LEU mg

PRO gm

Energy kcal

6 AM

Formula

8 oz

86

4.8

180

9 AM

Baby food, rice cereal, dry

(mixed with water or formula from daily allotment)

1.5 TBS

21

0.3

15

Applesauce

1 TBS

2

0

9

11 AM

Formula

8 oz

86

4.8

180

3 PM

Formula

8 oz

86

4.8

180

6 PM

Pureed sweet potatoes

Applesauce

1 TBS

1 TBS

8

2

0.2

0

10

9

8 PM

Formula

8 oz

86

4.8

180

TOTAL INTAKE

 

377 mg

19.7 g

763 kcal

Per kg BW

 

47 mg

2.5 g

95 kcal

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TABLE #17: Recommended Nutrient Intake for the School-aged Child with MSUD

AGE

Individual >4 years of age (classical to mild MSUD)

NUTRIENT

LEU

mg/d

Approx

Intact PRO

g/kg

ILE

mg/d

VAL

mg/d

Total PRO

g/kg

ENERGY

kcal/kg

>4 yr

275-500

5.0 - 8.0

250-450

325-500

120% DRI

DRI

As there is a range in the recommendations for the BCAA, energy and PRO, monitoring growth, clinical status and biochemical markers is essential when prescribing the nutrient intake for any individual with MSUD. There may be some individuals who will need intakes outside the recommended ranges for optimal outcome. If monitoring results are consistent with good control, dietary modifications such as introduction of solid foods or change in formula mixture should be based on current intake.

This table is an excerpt of TABLE #4, Recommended Dietary PRO, BCAA and Energy Intake from the Nutrition Management Guideline for MSUD where more details are provided.

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TABLE #18: Sample Menu for Case 5.1: school age child with MSUD

Meal

Food/beverage items

Amount

LEU mg

PRO g

Energy kcal

Breakfast

Cereal, puffed rice

1 cup (14 g)

74

0.9

56

Banana

1 medium

80

1.3

105

Rice milk, unsweetened

4 oz

9

0.2

24

BCAD-2

30 g (plus water to make 8 oz total)

0

7.2

123

Lunch

Half sandwich:

     low-protein bread

     apple butter

1 slice

2 TBS

7

7

0.1

0.1

130

59

Carrot sticks

36 g

37

0.3

15

Wise onion rings

1 pkg (14 g)

7

0.3

70

Lemon pudding cup

1 snack cup

9

0.1

124

MSUD cooler 15

1 pouch (130 mL)

0

15

92

Snack

Popcorn, microwave, butter-flavored

1 cup

84

0.7

43

Apple juice

4 oz

4

0.1

58

Dinner

Pasta, low-protein, cooked

1/3 cup, dry

16

0.3

203

Marinara sauce

½ cup

66

2.1

74

Broccoli, cooked

½  cup

115

1.9

27

Low-protein bread, toasted

Garlic butter

1 slice

1 tsp

7

4

0.1

0

130

34

Watermelon, diced

1 cup

27

0.9

46

BCAD-2

30 g (plus water to make 8 oz total)

0

7.2

123

TOTALS

  

551mg

38.7g

1532 kcal

Per kg actual weight (20 kg)

 

28 mg

1.9 g

77 kcal

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TABLE #19: Nutrition Goals During Acute Illness

Component

Goal

Source(s)

Energy

150% of recommended 1,2

Enteral: BCAA-free medical food and, as needed, other BCAA/PRO free energy sources - e.g., Solcarb (Solace Nutrition), S.O.S. (Vitaflo USA),Pro-Phree (Abbott Nutrition), Duocal (Nutricia); PFD (Mead Johnson)

Parenteral2: 10% glucose/dextrose3, 20% Intralipids @ 2 gm/kg/day.

BCAA-free AA

120-150% of recommended

Enteral: BCAA-free medical food4

Parenteral: BCAA-free specialty TPN6

Fluids and electrolytes

Individualized3,5

Enteral: additional protein-free oral fluids,e.g., juices, sport drinks

Parenteral5: Glucose/dextrose solutions and TPN

BCAA (ILE and VAL)

20-120 mg/kg/day6 for each

Enteral: may be added to the medical food, as weighed powder, or in appropriate volume of 1% solutions

Parenteral: from specialty pharmacies. Or, if no parenteral form is available, use small volumes given orally, or slow drip by NG or g-tube.

Insulin7

 to prevent or reverse hyperglycemia 

1. To promote anabolism, an increase in the recommended intake TABLE #4, Recommended Dietary PRO, BCAA and Energy Intake based on age and ideal weight for healthy individuals with MSUD).

2. More concentrated solutions are possible if access is through a PICC/central line

3. Glucose solution given at a rate of 1.5-2 X maintenance is possible but never use maximum rate unless constant monitoring confirms there is no brain edema or electrolyte imbalance

4. Provide not only the recommended PRO for age and size, but also replace the sources of intact PRO removed to restrict BCAA and add additional energy

5. Although dehydration and acid-base imbalance are often seen during illness, very careful monitoring is needed to prevent cerebral edema from fluid overload and electrolyte imbalance

6. To reach and maintain blood VAL and ILE goals of ~ 400 µM, added VAL and LEU are needed during the acute phase of illness to help decrease LEU levels by providing substrate for PRO synthesis and prevent ILE and VAL deficiencies.

7. Insulin may be necessary to maximize glucose utilization and prevent hyperglycemia

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TABLE #20: Monitoring During Acute Illness

Assessment

Intervals1

BCAA by plasma amino acids

12 hr or as indicated

Sodium, potassium, water balance

12 hr or as indicated

Glucose

12 hr or as indicated

Clinical signs of intracranial pressure

continuously

Weight and urine output

Daily, or as indicated

Urine osmolarity

Daily, or as indicated

1. Intervals dependent on clinical judgement of intensive care and metabolic physicians as well as facility resources. For further discussion and details of acute illness care see: R.3 and R.25

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TABLE #21: Recommended Nutrient Intake for Pregnant Woman with MSUD

Age/Stage

PREGNANCY and POSTPARTUM (classical MSUD)

NUTRIENT

LEU

mg/kg

Approx

Intact PRO

g/day

ILE

mg/day

VAL

mg/day

Total PRO

g/day

ENERGY

kcal/day

1st trimester

300 - 500

5.0 - 8.0

250-450

325-500

120% DRI

plus 0.5g/d

DRI plus

85 kcal/d

2nd trimester

600 -1000

10 - 16

400-800

600-1000

120% DRI

plus 7.7g/d

DRI plus
285 kcal/d

3rd trimester

800 - 2000

13 - 33

650-1200

800-1800

120% DRI

plus 25g/d

DRI plus
375 kcal /d

Postpartum

If not breast feeding, return to pre-pregnancy intake

Lactation

Intake while breastfeeding should be approximately the same as in the 3rd trimester

As there is a range in the recommendations for the BCAA, energy and PRO, monitoring growth, clinical status and biochemical markers is essential when prescribing the nutrient intake for any individual with MSUD. There may be some individuals who will need intakes outside the recommended ranges for optimal outcome. If monitoring results are consistent with good control, dietary modifications such as introduction of solid foods or change in formula mixture should be based on current intake.

This table is an excerpt of TABLE #4, Recommended Dietary PRO, BCAA and Energy Intake from the Nutrition Management Guideline for MSUD where more details are provided.

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TABLE #22: Recommended Nutrient Intakes for an Adult Woman with Classical MSUD (Non-pregnant)

AGE

LEU

mg/day

Intact PRO

g/day

ILE

mg/day

VAL

mg/day

Total PRO

g/day

Energy

Kcal/day

19+ years

275-500

5.0-8.0

250-450

325-500

120% DRI1

DRI

1 DRI for PRO for adult (non-pregnant) women is 46 g/day; for women with MSUD recommended intake is 55 g (120% of DRI).

As there is a range in the recommendations for the BCAA, energy and PRO, monitoring growth, clinical status and biochemical markers is essential when prescribing the nutrient intake for any individual with MSUD. Some individuals may need intakes outside the recommended ranges for optimal outcome. If monitoring results are consistent with good control, dietary modifications such as change in medical food mixture should be based on current intake.

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TABLE #23: 24-Hour Dietary Intake of an Adult Woman with Classical MSUD (non-pregnant)

Meal

Food/beverage items

Amt

LEU mg

PRO g

Energy

Kcal

Breakfast

Hash brown patty (frozen)

1 (29 g)

57

0.77

63

Catsup

½ TBS

2

0.09

9

Frosted rice flakes

½ cup (16 g)

114

1.36

109

Unsweetened rice milk beverage

½ cup (4 oz)

9

0.15

24

Medical Food

1 cup (8 oz)

-

20

230

Lunch

Low protein pasta salad 1

1 cup

32

0.55

378

Baby carrots

8

28

0.50

28

Fresh pear

1 (medium)

34

0.64

101

Medical Food

1 cup (8 oz)

-

20

230

Snack

Apple chips

12 (28 g)

12

0.20

140

Dinner

Vegetarian chili 1

1.5 cups (12 oz)

157

3.0

140

Low protein tortillas 1

2 (8 inch)

6

0.16

208

Margarine

2 tsp

8

0.09

69

Medical Food

1 cup (8 oz)

-

20

230

Snack

Hunts lemon pudding

One snack pack (90 g)

-

-

124

Sugar wafers

4 (14 g)

36

0.54

70

Totals

Amt /kg BW

  

495mg

8.4 mg/kg BW

68g

1.15g/kg BW

2153Kcal

36/kg BW

1 Recipes found in R.109

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TABLE #24: Calculation of Current Nutrient Intake for AC Prior to Pregnancy

Components

Amt

LEU mg

Approx

Intact PRO g

ILE mg

VAL mg

Total

PRO g

Energy

Kcal

Complex Essential MSD Drink Mix

160 g (4 scoops)

0

0

0

0

40

608

Complex MSD AA blend

25 g (2 scoops)

0

0

0

0

20

81

L-isoleucine, 20 mg/mL solution

10 mL

0

0

200

0

0.2

1.32

L-valine, 20 mg/mL solution

15 mL

0

0

0

300

0.3

1.82

Water to make 23 oz

       

Food

varies

~5001

8.3

~2801

~2251

~8.3g

~1463

Totals

Amt /kg BW

 

~500mg 8.5mg/kg BW

8.3g

0.14g/kg BW

~480mg 8.1mg/kg BW

~525mg

8.9mg/kg BW

~68g3

1.2g/kg BW

~2153Kcal

36Kcal/kg BW

1Approximate BCAA content of protein in a mixed diet is:

LEU: 60 mg/g PRO

ILE: 27 mg/g PRO

VAL: 34 mg/g PRO

2negligible contribution to energy, may count as zero

3 DRI for PRO for adult (non-pregnant) women is 46 g/day; for women with MSUD, the recommended intake is 55 g (120% of DRI).

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TABLE #25: 24-Hour Intake Modified for Increased Intact Protein

Meal

Food/beverage items

Amount

LEU mg

PRO g

Energy Kcal

Breakfast

Hash brown patty (frozen)

1 (29 g)

57

0.77

63

Catsup

1 TBS

4

0.18

18

Honey Nut Cheerios

1 cup (28 g)

366

2.63

109

Unsweetened rice milk beverage

½ cup (4 oz)

9

0.15

24

Non-dairy liquid creamer

¼ cup (2 oz)

51

0.60

81

Medical food

1 cup (8 oz)

-

20

230

Snack

Granola bar

1 (23 g)

116

1.6

93

Lunch

Pasta salad with regular pasta 1

1 cup

682

10.0

390

Baby carrots

8

28

0.50

28

Fresh pear

1 (large)

44

0.83

131

Medical food

1 cup (8 oz)

-

20

230

Snack

Apple chips

12 (28 g)

12

0.20

140

Fruit Punch

1 cup (8 oz)

-

0.25

115

Dinner

Vegetarian chili with 2 TBS kidney beans 1

1.5 cups

(12 oz)

353

5.66

186

Flour tortillas

2 (6 inch)

219

4.92

200

Margarine

1 TBS

11

0.09

101

Medical food

1 cup (8 oz)

-

20

230

Snack

Hunts lemon pudding

1 snack pack (90 g)

-

-

124

Chocolate chip cookies

4 (medium 2 ¼")

160

2.16

192

Totals

Amt/kg BW

  

2112mg

31mg/kg BW

90.54g

1.33 g/kg BW

2685Kcal

39 Kcal/kg BW

1 Recipes in R.109 and modified in the above menu

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TABLE #26: Calculation of Current Nutrient Intake for AC at 30 Weeks Gestation

Components

Amt

LEU mg

Approx

Intact PRO g

ILE mg

VAL mg

Total

PRO g

ENERGY Kcal

Complex Essential MSD Drink Mix

160 g (4 scoops)

0

0

0

0

40

609

Complex MSD AA blend

25 g (2 scoops)

0

0

0

0

20

81

L-isoleucine 20mg/mL

4mL

0

0

80

0

0.08

0.252

L-valine 20mg/mL

25mL

0

0

0

500

0.5

32

Water to make 23 oz

       

Food

varies

2,1121

30

1,2221

1,3331

30

1995

Totals

Amt /kg BW

 

2,112mg

31mg/kg BW

30g3

 0.44g/g BW

1302mg

19mg/kg BW

1833mg

27mg/kg BW

90.6g

1.33g/kg BW

2685Kcal 39Kcal/kg BW

1 Calculated from MetabolicPro for the menu modified to increase protein

2negligible contribution to energy, may count as zero

3 Intact PRO intake increased 3.6-fold

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