A genetic defect diminishing branched-chain alpha-keto acid dehydrogenase (BCKAD)complex activity results in ____.

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The genetic defect that diminishes BCKAD complex activity results in Maple Syrup Urine Disease (MSUD) which is named so as the urine of affected individuals has a sweet, maple syrup-like odor. MSUD is an autosomal recessive disorder that affects the metabolism of the branched-chain amino acids (BCAAs) leucine, isoleucine, and valine. The accumulation of these amino acids and their toxic by-products causes severe neurological disturbances and leads to brain damage if left untreated.

A Genetic Defect Diminishing Branched-Chain Alpha-Keto Acid Dehydrogenase (BCKAD)complex Activity