All issues > Volume 44(4); 2001

Case Report

J Korean Pediatr Soc. 2001;44(4):469-474. Published online April 15, 2001.

A Case of Maple Syrup Urine Disease Associated with Acrodermatitis Enteropathica-like Syndrome Due to Iisoleucine Deficinecy During Diet Therapy

Ki Hyang KH Moon¹, Oh Sook OS Gwon¹, Jung Im JI Lee², Seong Woo SW Rho¹, Seong Sook SS Jeon¹, Son Sang SS Seo¹

¹Department of Pediatrics, Ilsin Christian Hospital, Pusan, Korea
²Department of Pediatrics, Ilsin Christian Hospital, Pusan, Korea

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 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.

Keywords :Branched-chain amino acids, Maple syrup urine disease, Acrodermatitis enteropathica-like syndrome