Article
Relationship of causative genetic mutations in maple syrup urine disease with their clinical expression.
Molecular genetics and metabolism - 1 Jan 2000
Nellis Mary M, Kasinski Andrea, Carlson Martha, Allen Richard, Schaefer Anna Marie, Schwartz Edward M, Danner Dean J
Abstract excerpt
Maple syrup urine disease [MSUD] is a rare inborn error of metabolism inherited as an autosomal recessive trait through mutations in any of three different genes that encode components of the branched chain alpha-ketoacid dehydrogenase [BCKD] complex. In this work, the genotype of affected individuals was correlated with their clinical histories. These individuals were diagnosed and followed in a single...
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