Abstract
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Maple syrup urine disease (MSUD) is caused by a deficiency in the branched-chain keto acid dehydrogenase enzyme complex that metabolizes the keto acids of leucine, isoleucine, and valine.
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Infants with classical MSUD can present with intoxication syndrome and require aggressive nutrition support to prevent or reverse catabolism.
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Nutrition management includes use of medical foods devoid of branched-chain amino acids, dietary leucine restriction, supplemental valine and isoleucine, and provision of adequate energy, protein, vitamins, and minerals.
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The goal of therapy is to maintain plasma leucine concentrations of 100–200 μmol/L for infants and children <5 years and 100–300 μmol/L for those over 5 years of age.
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van Calcar, S. (2015). Nutrition Management of Maple Syrup Urine Disease. In: Bernstein, L., Rohr, F., Helm, J. (eds) Nutrition Management of Inherited Metabolic Diseases. Springer, Cham. https://doi.org/10.1007/978-3-319-14621-8_16
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DOI: https://doi.org/10.1007/978-3-319-14621-8_16
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