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Maple syrup urine disease(MSUD) is an autosomal recessive disorder involving the metabolism of the branched-chain amino acids(BCAA) such as leucine, isoleucine and valine. The disorder is due to a defect in branched-chain α-ketoacid dehydrogenase(BCKAD) and the classic form causes rapid progressive and overwhelming illness beginning in the first weeks of life, present with poor feeding, lethargy, change in muscle tone,... |
