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
In the Vinony graph
Within Vinony's link graph, maple syrup urine disease is referenced by 130 other articles, and connects out to intravenous infusion and defusion, dietitian and branched-chain amino acid.
Vinony files it under Amino acid metabolism disorders, Autosomal recessive disorders and Congenital disorders of urinary system.
Its subject is documented across 25 Wikipedia language editions.
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