maple syrup urine disease type 1A
MONDO:0023691Mondo
Findings
No curated finding names maple syrup urine disease type 1A yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
A maple syrup urine disease caused by mutations in BCKDHA.
Definition from the Mondo Disease Ontology (MONDO:0023691), read 2026-09-29. CC BY 4.0.
Features
3 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Increased level of hippuric acid in urineHPOHP:0410066
- 20 of 20 reported patients
- Elevated circulating L-alloisoleucine concentrationHPOHP:0033155
- Positive 2,4-dinitrophenylhydrazine urine testHPOHP:6000124
Genes
3 genes
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- BCKDHAHGNC:986
- Definitive · ClinGen · Autosomal recessive · 2018
- Definitive · Myriad Women's Health · Autosomal recessive · 2018
- Definitive · G2P · Autosomal recessive · 2015
- Strong · PanelApp Australia · Autosomal recessive · 2025
- BCKDHBHGNC:987
- Strong · PanelApp Australia · Autosomal recessive · 2025
- DBTHGNC:2698
- Strong · PanelApp Australia · Autosomal recessive · 2025
Where it sits
- A kind of
Other names
1 name
Resolves to: maple syrup urine disease type 1A
- Also called
- maple syrup urine disease, type IA