Pediatric Research 1989-01-01

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

U Wendel, U Langenbeck, J W Seakins

Index: Pediatr. Res. 25 , 11-14, (1989)

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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.