- Case Report
- A Case of Maple Syrup Urine Disease Associated with Acrodermatitis Enteropathica-like Syndrome Due to Iisoleucine Deficinecy During Diet Therapy
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Ki Hyang Moon, Oh Sook Gwon, Jung Im Lee, Seong Woo Rho, Seong Sook Jeon, Son Sang Seo
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Clin Exp Pediatr. 2001;44(4):469-474. Published online April 15, 2001
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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,... |
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