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Maple syrup urine disease Deficiencies in the metabolism of branched-chain amino acids can result in the diagnosis of maple syrup urine disease (MSUD)

Testing is performed by Freedom Diagnostics across HPLC-UV purity, LC-MS identity, and endotoxin analysis, with results published per lot

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In laboratory testing, free carnitine and total carnitine are usually measured (along with the acylcarnitine profile)