Maple Syrup Urine Disease Follow-up
- Author: Olaf A Bodamer, MD, PhD, FAAP, FACMG; Chief Editor: Luis O Rohena, MD more...
Further Outpatient Care
Follow up with patient at regular intervals (ie, at least once every 6-12 mo) with a biochemical geneticist familiar with the management of maple syrup urine disease (MSUD).
Patients should avoid consuming branched-chain amino acids (ie, natural protein) in excess of their daily allowance.
Patients with MSUD are at risk for metabolic decompensation during periods of increased catabolism. Dietary compliance is necessary to prevent developmental delay and neurological symptoms.
Educate patients and their caregivers about the principles of dietary treatment, calculation of leucine requirement, and intake and initial management of acute episodes. Supply a written emergency regimen and emergency card.
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