Open AccessReal‐world management of maple syrup urine disease (MSUD) metabolic decompensations with branched chain amino acid ‐free formulas in France and Germany: A retrospective observational study
Author(s) -
de Lonlay Pascale,
Posset Roland,
Mütze Ulrike,
Mention Karine,
Lamireau Delphine,
Schiff Manuel,
Servais Aude,
Arnoux Jean Baptiste,
Brassier Anaïs,
Dao Myriam,
Douillard Claire,
Ottolenghi Chris,
Pontoizeau Clément,
Miotto Federica,
Le Mouhaër Jeannie
Publication year - 2021
Publication title -
jimd reports
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.412
H-Index - 25
ISSN - 2192-8312
DOI - 10.1002/jmd2.12207
Subject(s) - maple syrup urine disease , medicine , enteral administration , parenteral nutrition , retrospective cohort study , gastroenterology , pediatrics , adverse effect , infant formula , leucine , amino acid , chemistry , biochemistry
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.