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Hoffmann, R. A wiki for the life sciences where authorship matters. Nature Genetics (2008)

Interrelation between the metabolism of L-isoleucine and L-allo-isoleucine in patients with maple syrup urine disease.

The nonprotein amino acid L-allo-isoleucine is formed endogenously in maple syrup urine disease patients from (R)-3-methyl-2-oxo-pentanoic acid. During strict metabolic balance, the plasma L-allo-isoleucine/L-isoleucine ratio correlates inversely with the residual activity of the branched-chain 2-oxoacid dehydrogenase in fibroblasts and thus constitutes a relevant in vivo parameter of the severity of the metabolic defect in MSUD patients.[1]


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