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MSUD Nutrition Management Guidelines
First Edition
February 2013, v.1.50
Current version: v.1.58
Updated: August 2016
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Nutrition Assessment
Patient History

History of treatment/interventions

Review of family history

Socio-economic and educational status

Anthropometrics

Weight, height, head circumference, weight for length (or weight for height or BMI), http://www.cdc.gov/growthcharts/cdc_charts.htm

and http://www.cdc.gov/growthcharts/who_charts.htm

Nutrition-focused Physical Findings

Tone, odor, skin, hair, constipation, diarrhea, vomiting

 

Laboratory Findings, Medical Tests and Procedures

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

+

-

Food and Nutrition-related History

Using outcome measures of anthropometrics, clinical history and laboratory assessment, evaluate the most recent dietary prescription and current dietary intake records for:

  • BCAA (LEU, VAL, ILE) intake
  • Medical food consumption (type and amount) and its macronutrient, vitamin/mineral content. See: http://gmdi.org/images/stories/foodtable/msud%20products2.pdf
  • Total intake of:
    Protein (intact protein and amino-acid mixtures)
    Energy
    Vitamins and minerals
    Fluid
    Essential fatty acids and DHA
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