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A Case of Maple Syrup Urine Disease Associated with Acrodermatitis Enteropathica-like Syndrome Due to Iisoleucine Deficinecy During Diet Therapy
Journal of the Korean Pediatric Society ; : 469-474, 2001.
Artigo em Coreano | WPRIM | ID: wpr-28406
ABSTRACT
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 alpha-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.
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Texto completo: DisponíveL Índice: WPRIM (Pacífico Ocidental) Assunto principal: Plasma / Convulsões / Acidose / Valina / Acrodermatite / Coma / Acer / Dieta / Dietoterapia / Letargia Limite: Humanos / Lactente Idioma: Coreano Revista: Journal of the Korean Pediatric Society Ano de publicação: 2001 Tipo de documento: Artigo

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Texto completo: DisponíveL Índice: WPRIM (Pacífico Ocidental) Assunto principal: Plasma / Convulsões / Acidose / Valina / Acrodermatite / Coma / Acer / Dieta / Dietoterapia / Letargia Limite: Humanos / Lactente Idioma: Coreano Revista: Journal of the Korean Pediatric Society Ano de publicação: 2001 Tipo de documento: Artigo