Loss-of-function mutations in BCKDHA or BCKDHB cause MSUD
Primers available for 3 of 3 genes in this pathway.
| Gene | Product | Specificity | |
|---|---|---|---|
| BCKDHA | 145 bp | Multi-target | View primer |
| BCKDHB | 147 bp | Gene-specific | View primer |
| DBT | 132 bp | Gene-specific | View primer |
Source: R-HSA-9865125 · Pathway data from Reactome, released under CC0.