maple syrup urine disease
Sign in to saveAlso known as branched chain ketoaciduria, dihydrolipoamide dehydrogenase deficiency, Maple Syrup Urine Disease; MSUD, MSUD, ketoacidaemia
human disease
Research
1,678 papers- Branched-chain α-ketoacid dehydrogenase deficiency (maple syrup urine disease): Treatment, biomarkers, and outcomes.Molecular genetics and metabolism · 2020
- Nutrition management guideline for maple syrup urine disease: an evidence- and consensus-based approach.Molecular genetics and metabolism · 2014
- Neonatal maple syrup urine disease case report and literature review.Medicine · 2022
- Inflammation in maple syrup urine disease.Clinica chimica acta; international journal of clinical chemistry · 2026
- Maple Syrup Urine Disease.Radiology · 2024
via PubMed
Wikidata facts
- Subclass of
- disease
- Named after
- maple syrup
Show 8 more facts
- NCI Thesaurus ID
- C34806
- health specialty
- endocrinology
- exact match
- www.orpha.net/ORDO/Orphanet_511
- has phenotype
- seizure
- external data available at URL
- www.nanbyou.or.jp/entry/4813
- genetic association
- BCKDHB
- on focus list of Wikimedia project
- WikiProject Medicine
- symptoms and signs
- vomiting
via Wikidata · CC0