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.
Publication types
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Research Support, Non-U.S. Gov't
MeSH terms
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3-Methyl-2-Oxobutanoate Dehydrogenase (Lipoamide)
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Chemical Phenomena
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Chemistry
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Child, Preschool
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Female
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Fibroblasts / enzymology
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Humans
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Infant
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Infant, Newborn
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Isoleucine / blood*
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Isomerism
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Ketone Oxidoreductases / metabolism
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Kinetics
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Male
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Maple Syrup Urine Disease / diagnosis
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Maple Syrup Urine Disease / metabolism*
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Multienzyme Complexes / metabolism
Substances
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Multienzyme Complexes
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Isoleucine
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Ketone Oxidoreductases
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3-Methyl-2-Oxobutanoate Dehydrogenase (Lipoamide)