BCKDHB genotyping

Indications

• evaluation of maple syrup urine disease

Notes

• common variants = R183P, G278S, E422X

More general terms

• genotyping (allele testing)

Additional terms

• branched-chain keto-acid dehydrogenase E1-beta; 2-oxoisovalerate dehydrogendase-beta; BCKDH E1-beta (BCKDHB)