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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,...

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