Real-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.

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%)

SUBMITTER: de Lonlay P 

PROVIDER: S-EPMC8100389 | biostudies-literature | 2021 May

REPOSITORIES: biostudies-literature