Maple diabetes in children

Maple syrup urine disease (MSUD) is an autosomal recessive disease. Due to a congenital defect of the branched keto dehydrogenase, the catabolism of branched amino acids is blocked, which is excreted in the urine of children. A large amount of α-keto-β-methylvaleric acid, named after the sweet smell of maple syrup.

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