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Case Report

A Case of Maple Syrup Urine Disease Controlled by Peritoneal Dialysis and Diet

Ju Wan Kim, June Huh, Won Il Park, Kyung Ja Lee, Hong Jin Lee

Clin Exp Pediatr. 2001;44(1):94-98. Published online January 15, 2001

Maple syrup urine disease is an autosomal recessive disease caused by a deficiency of the branched-chain α-ketoacid dehydrogenase complex. The disease is often suspected because of the peculiar odor of maple syrup in urine. Maple syrup urine disease is usually confirmed by amino acid analysis and urine organic acid analysis showing marked elevations of leucine, isoleucine, valine, and respective ketoacids in...

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