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  • Molecular assay reagents intended to identify mutations in the branched-chain keto-acid dehydrogenase E1, beta polypeptide (BCKDHB) gene, located at chromosome 6q13-q15, which encodes for the E1-beta subunit of the branched-chain alpha-keto acid (BCAA) dehydrogenase complex. This enzyme is responsible for one step in the breakdown of three amino acids: leucine, isoleucine, and valine; the breakdown products of these amino acids are used for energy. Mutations at this locus have been identified in patients with early-onset maple syrup urine disease (MSUD).
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