BCKDHB gene mutation

Clinical significance

• BCKDHB gene mutation are the cause of maple syrup urine disease type 1B

More general terms

• gene mutation testing; gene mutation analysis

Additional terms

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