Gene BCKDHB

Also known as

E1B, MSUD1B

Overview

BCKDHB (Branched Chain Keto Acid Dehydrogenase E1 Subunit Beta) encodes the beta subunit of the E1 component of the branched-chain alpha-keto acid dehydrogenase complex (BCKD). This enzyme complex is essential for the catabolism of the branched-chain amino acids leucine, isoleucine, and valine.

Mutations in BCKDHB cause maple syrup urine disease (MSUD), an autosomal recessive metabolic disorder characterized by the inability to properly break down branched-chain amino acids. Affected individuals accumulate these amino acids and their toxic byproducts, leading to the characteristic sweet-smelling urine, neurological damage, and potentially fatal metabolic crises if untreated.

Newborn screening for MSUD is now standard in many countries, allowing for early dietary intervention with restricted branched-chain amino acid intake. Understanding your BCKDHB genetic status is important for carrier screening and early diagnosis, as prompt treatment can prevent intellectual disability and other complications.

NutraHacker Raw DNA Analysis Products that include this gene

• Carrier Status & Drug Response Report

Upload raw DNA data to get your very own analysis of gene BCKDHB through your personalized DNA reports.