Abstract
ABSTRACT: 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.
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Wendel, U., Langenbeck, U. & Seakins, J. Interrelation between the Metabolism of L-Isoleucine and L-Allo-Isoleucine in Patients with Maple Syrup Urine Disease. Pediatr Res 25, 11–14 (1989). https://doi.org/10.1203/00006450-198901000-00003
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DOI: https://doi.org/10.1203/00006450-198901000-00003
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