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Case Report
A Case of Maple Syrup Urine Disease Associated with Acrodermatitis Enteropathica-like Syndrome Due to Iisoleucine Deficinecy During Diet Therapy
Ki Hyang Moon, Oh Sook Gwon, Jung Im Lee, Seong Woo Rho, Seong Sook Jeon, Son Sang Seo
Clin Exp Pediatr. 2001;44(4):469-474.   Published online April 15, 2001
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,...
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...
A Case of Maple Syrup Urine Disease
Dong Hyun Cho, Hyun Mi Lee, Soon Young Kim, Chang Soo Ra
Clin Exp Pediatr. 1997;40(9):1297-1302.   Published online September 15, 1997
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