Back to Search
Start Over
Real‐world management of maple syrup urine disease (MSUD) metabolic decompensations with branched chain amino acid <scp>‐free</scp> formulas in France and Germany: A retrospective observational study
- Source :
- JIMD Reports, JIMD Reports, Vol 59, Iss 1, Pp 110-119 (2021)
- Publication Year :
- 2021
- Publisher :
- Wiley, 2021.
-
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.
- Subjects :
- Research Report
medicine.medical_specialty
Nausea
Endocrinology, Diabetes and Metabolism
metabolic decompensations
QH426-470
Biochemistry, Genetics and Molecular Biology (miscellaneous)
Enteral administration
Gastroenterology
Diseases of the endocrine glands. Clinical endocrinology
BCAA‐free formula
Internal medicine
Genetics
Internal Medicine
medicine
Decompensation
Adverse effect
business.industry
Maple syrup urine disease
Metabolic disorder
Research Reports
Retrospective cohort study
RC648-665
medicine.disease
maple syrup urine disease
Vomiting
observational study
medicine.symptom
business
Subjects
Details
- ISSN :
- 21928312
- Volume :
- 59
- Database :
- OpenAIRE
- Journal :
- JIMD Reports
- Accession number :
- edsair.doi.dedup.....34faa41157f642e73e1b51940dcd6f60