ABSTRACT
Maple syrup urine disease (MSUD) is a rare inborn metabolic disorder, managed with a strict protein-restricted diet. At any time or age patients may still experience metabolic decompensations, requiring administration of branched chain amino acid (BCAA)-free formula to reduce leucine levels. This retrospective observational study of 126 decompensation episodes from 54 MSUD patients treated at five centers in France and Germany from 2010 to 2016, describes episodes and outcomes for patients stratified into groups who received enteral/oral or intravenous (IV) BCAA-free formula, and by pediatric or adult age categories. IV administration of BCAA-free formula was required in cases of gastric intolerance (33%), refusal to undergo nasogastric tubing (31%), "emergency" (14%) or coma patients (8%), and as prophylaxis before surgery (6%). Overall, mean duration of hospitalization was 6.6 days with oral/enteral BCAA-free formula and 5.4 days with IV formula. Leucine levels at discharge decreased by a mean of 548.5 µmol/L (69.3%) in the oral/enteral group and 657.2 µmol/L (71.3%) in the IV group. In the pediatric subgroup, there were no marked differences between administration groups on any outcome. In the adult subgroup, mean time to episode resolution was 15.8 days in the oral/enteral group and 7.7 days in the IV group (P = .008); mean duration of hospitalization was 6 days in the oral/enteral group and 4.6 days in the IV group (P = NS). Overall, seven serious adverse events in two patients were reported, of which only nausea and vomiting were treatment related.
