Download Emergency letter for families (MSUD, Div Metabolic Genetics, UUHSC)

Please see this child immediately
Emergency Letter: MAPLE SYRUP URINE DISEASE (MSUD)
Date:
RE: Name
DOB:
[NAME] is followed by the Metabolic Clinic at the University of Utah for Maple Syrup Urine
Disease. This inborn error of metabolism confers a high risk for brain edema with severe and
permanent brain damage or death if inadequately treated when the child is sick. Such risk is
highest in case of fasting, dehydration, or fever, when the body is catabolic and needs to use
endogenous proteins for calories. This child needs to be seen by the ER physician as soon as
possible.
In MSUD, chronic treatment is based on a special diet with medical formula devoid of leucine,
isoleucine and valine. Treatment of acute events aims at providing substantial amounts of extra
fluids and calories, using insulin as needed to induce an anabolic state and reduce blood leucine
levels, and preventing hyponatremia. Parents have been instructed to bring the child to the
Emergency Room if unable to eat for more than 12 hours or if the child has high fever/vomiting.
Immediate Recommended Treatment
in case of fever, vomiting, diarrhea, or fasting, to prevent the neurologic complications
 STOP protein intake, but allow special medical formula if tolerated (e.g., KETONEX
1 and 2 diluted to 24 cal/oz). Enteral feeds are the most effective, use NG tube if
necessary.
 START immediately IV fluids (even if the child does not look dehydrated) to give
extra fluids and calories:
o Use D10W or D12.5W, in half-normal Saline, with 20 mEq/L KCl, infused at
1.5 to twice maintenance (after second birthday, use one quarter normal
saline instead of half normal saline)
o Add Intralipids 20% if available, infused at one tenth of the rate of D10W
infusion
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MONITOR for signs of BRAIN EDEMA: can give mannitol IV (0.5 g/kg per dose) if
suspected.
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GET the following labs: Basic Metabolic Panel, CBC with differential, Plasma
Ammonia, Urine organic acids, Urine analysis (for ketones)
MONITOR glucose every 3 hours: if >180 mg/dl, use insulin bolus (0.1 U/kg) as
needed. Insulin is very effective at reducing plasma leucine levels. Stop insulin when
glucose drops under 140. Keep glucose between 90 and 150 mg/dL.
MONITOR serum Sodium every 4 hours, for risk of hyponatremia. Keep above 136
to prevent brain edema. Consider using 3% NaCl (1 ml/kg) to keep Na from dropping
under 136.
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CALL Geneticist: please phone (801) 581-2121 and ask for the geneticist on call to be
paged.
Try to identify cause of decompenstion (usually infection) and start causal
treatment as necessary.
DISCHARGE only when afebrile, stable, well hydrated, able to eat adequately,
without vomiting or diarrhea, without ketones in urine and with normal basic
metabolic panel (including normal sodium)
Thank you in advance,
Lorenzo Botto, MD / Nicola Longo, MD PhD/Ashley Warnock MD
Genetics/Pediatrics, University of Utah
(801) 585-2457