maple syrup urine disease type 1B
MONDO:0023692Mondo
Findings
No curated finding names maple syrup urine disease type 1B 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 BCKDHB.
Definition from the Mondo Disease Ontology (MONDO:0023692), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Infantile onset · Neonatal onset
HPO, annotations 2026-09-02
Features
7 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.
- Feeding difficultiesHPOHP:0011968
- 3 of 3 reported patients
- HyperisoleucinemiaHPOHP:0010913
- 2 of 2 reported patients
- HyperleucinemiaHPOHP:0010911
- 3 of 3 reported patients
- HypervalinemiaHPOHP:0010910
- 2 of 2 reported patients
- LethargyHPOHP:0001254
- 2 of 2 reported patients
- OpisthotonusHPOHP:0002179
- 1 of 1 reported patient
- SeizureHPOHP:0001250
Genes
1 gene
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.
- BCKDHBHGNC:987
- Definitive · ClinGen · Autosomal recessive · 2019
- Definitive · Myriad Women's Health · Autosomal recessive · 2018
- Definitive · G2P · Autosomal recessive · 2015
Where it sits
- A kind of