Maple Syrup Urine Disease Care Plan
(last updated 2/21/09)
Clinical Considerations
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Stabilizing neonate (essential AA versus
hemodialysis)
Pancreatitis
Chronic demyelination from long-term
elevated Leu
Type- intermittent, intermediate, classic
Diet considerations/ treatment
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Leu, Iso, Val restricted diet
BCAA-free formula
Avoid fasting
Supplementation
o Thiamine trial
Consider valine/isovaline supplementation
Iron supplementation if low
Frequency of visits
Age
0-6 months
6-24 months
>2 yrs
Frequency
Every 2 months
Every 3 months
Every 6 months
Immediate 10% dextrose with salts plus lipids
Cerebral edema risk-may need hemodialysis
Consider CT scan if edema present.
Track edema, Leu level (>600 µmol/L),
Isoleucine (>100µmol/L ), valine
(>100µmol/L ), use of dialysis, +/-mannitol,
coma score, and osmolarity
Other evaluations
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SAA +/- UOA
Basic metabolic panel
If symptomatic, osmolarity studies
BCKAD enzyme assay or molecular
confirmation
Monitoring
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Quant serum branched chain AA
Targeted treatment range
o Leu <500µmol/L
o Isoleucine >100µmol/L
o Valine >100µmol/L
Age
0-6 months
6-12 months
1-3 years
>3 years
Frequency
Every week
Every 2 weeks
Monthly
Every 3 months
Clinic visit labs
Emergency management
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Initial labs (diagnostic & baseline)
Brain MRI @ 1, 3, 6, &9 yrs
Bone health
o DEXA-spine @ 9 & 18 y
Yearly developmental questionnaires (to be
completed by parents)
Developmental eval @ 3 & 6 yrs
Neuropysch @ 9 & 18 yrs
Psychiatric screening @ 18y
Consider referring to Liver for transplant
Metabolic dietitian eval (at least yearly)
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See above
Labs to obtain during illness
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Quant plasma amino acids
Basic metabolic panel
Osmolarity
Amylase and lipase
Yearly labs
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Basic metabolic panel
Prealbumin
Plasma ferritin or transferrin
Amylase and Lipase
Consider essential fatty acid panel
The Mountain States Genetics Regional Collaborative Center (MSGRCC) is supported by cooperative agreement #U22MC10761 with the United States
Department of Health and Human Services, Health Resources and Services Administration, Maternal and Child Health Bureau, Genetic Services Branch.
Maple Syrup Urine Disease Care Plan
(last updated 2/21/09)
Performance Measures
1. Age of diagnosis (both positive NBS and
confirmatory SAA)
2. Presence of illness at time of diagnosis.
3. Days until Leucine is within treatment range
(<500µmol/L)
4. Therapy during initial care
a. Enteral MSD formula vs. dialysis
b. Track edema, Leu level (>600
µmol/L), use of dialysis, +/-mannitol,
coma score, and osmolarity
5. Initial lab studies
a. NBS result
b. Quant plasma amino acids
c. UOA
d. Metabolic panel
e. Osmolarity studies
f. Enzymatic results
g. Molecular results
6. Monitoring lab studies
a. Quantitative plasma amino acids
b. Basic metabolic panel
c. Osmolarity
d. Amylase and lipase
e. Nutrition labs
7. Frequency of clinic contacts and visits (track
compliance with visits)
8. Total decompensations and hospitalizations.
a. Track ICU admissions
b. # of days of hospitalization
c. # of ER visits
d. Track edema, Leu level (>600
µmol/L), Isoleucine (>100µmol/L ),
valine (>100µmol/L ), use of dialysis,
+/-mannitol, coma score, and
osmolarity
e. Lab studies
9. Number of pancreatitis episodes
10. DEXA results and number of fractures
11. Growth parameters (ht, wt, OFC, BMI)
12. Type of MSUD
a. Classic, Intermediate, Intermittent,
Thiamine responsive, or Lipoamide
dehydrogenase (E3) deficiency
13. Diet
a. Frequency of Metabolic dietitian
visits
b. Frequency of dietary analysis (3 day
diet records)
c. Natural protein intake (tolerance)
d. Formula (Y/N)
e. Medical foods (Y/N)
f. Mode (oral, G-tube, bolus/drip, meds
only/meds and diet)
14. Transplant (Y/ N)
15. Neuropsychological evaluation results
16. Developmental services (PT, OT, & speech)
17. School performance
a. Grade appropriate (Y/N)
b. Special services (Y/N)
c. IEP (Y/N)
18. Genetic Counseling (Y/N)
Outcome measures
1. Mortality
2. Development
a. IQ
b. Level of functioning
c. Decline in IQ or level of function
3. History and/or presence of pancreatitis
4. History and/or presence of ADHD and use of
medication
5. History and/or presence of psychiatric issues
(generalized anxiety, panic, and/or
depression)
6. History and/or presence of osteopenia
7. History and/or presence of abnormal MRI
findings
8. Outcome of liver transplantation
9. Growth
a. Final adult parameters
The Mountain States Genetics Regional Collaborative Center (MSGRCC) is supported by cooperative agreement #U22MC10761 with the United States
Department of Health and Human Services, Health Resources and Services Administration, Maternal and Child Health Bureau, Genetic Services Branch.