BCKDHA : branched chain keto acid dehydrogenase E1 subunit alpha

Description

The BCKDHA gene provides instructions for making a subunit of the branched-chain alpha-ketoacid dehydrogenase complex (BCKDC). This complex is a vital enzyme that plays a crucial role in the breakdown of branched-chain amino acids (BCAAs), namely leucine, isoleucine, and valine. BCKDC catalyzes the first step in the breakdown of BCAAs, converting them into products that can be further metabolized by the body. Deficiencies in BCKDHA can lead to a buildup of BCAAs in the blood and urine, resulting in a range of health issues.

Associated Diseases

• Maple Syrup Urine Disease (MSUD): This is the most common disorder caused by BCKDHA mutations. It is characterized by a distinctive maple syrup-like odor in the urine due to the accumulation of BCAAs.

Did you know?

The name "maple syrup urine disease" comes from the distinctive sweet odor of the urine in affected individuals, which resembles maple syrup.