Management
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MSUD Nutrition Management Guidelines
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February 2013, v.1.54
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Updated: April 2018
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Monitoring and Evaluation
Biomarkers to Monitor

Table 7 provides recommendations for the nutritional monitoring of individuals with MSUD.

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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