| 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 Moon1, Oh Sook Gwon1, Jung Im Lee2, Seong Woo Rho1, Seong Sook Jeon1, Son Sang Seo1 |
1Department of Pediatrics, Ilsin Christian Hospital, Pusan, Korea
2Department of Pediatrics, Ilsin Christian Hospital, Pusan, Korea |
| 식이요법 중 Isoleucine 결핍으로 인한 Acrodermatitis Enteropathica-like Syndrome이 동반된 단풍당뇨병 1례 |
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문기향1, 권오숙1, 이정임2, 노성우1, 전성숙1, 서손상1 |
1일신기독병원 소아과
2동의의료원 |
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| Abstract |
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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, acidosis, seizures and coma. The goal of therapy in acutely ill patients with MSUD is an immediate reduction in the plasma levels of the BCAAs and branched-chain ketoacids. In this report, we describe an infant with MSUD who was treated by dietary therapy alone. During the therapy, acrodermatitis enteropathica-like syndrome developed with low plasma isoleucine concentration while she was receiving a formula deficient in BCAAs. |
| Key Words:
Branched-chain amino acids, Maple syrup urine disease, Acrodermatitis enteropathica-like syndrome |
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