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Maple syrup urine disease: mechanisms and management

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Figure

Figure 1 Overview of BCAA catabolic pathway. The BCAAs undergo transamination that is catalyzed by the branched-chain aminotransferase (BCAT) and requires ketoglutarate, leading to the production of the Abbreviations:branched-chain α- α-ketoacids KIC, KMV,
Table 1 MSUD genetics, clinical phenotype, and biochemical features
Figure 2  Overview of MSUD testing algorithm in NBSAbbreviations: BCAAs, branched-chain amino acids; MSUD, maple syrup urine disease; NBS, newborn screening
Table 2 Recommended daily nutrient intake of BCAA, PRO, energy, and fluids for non-symptomatic individuals with MSUD

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