All issues > Volume 44(1); 2001

Case Report

J Korean Pediatr Soc. 2001;44(1):94-98. Published online January 15, 2001.

A Case of Maple Syrup Urine Disease Controlled by Peritoneal Dialysis and Diet

Ju Wan JW Kim¹, June J Huh¹, Won Il WI Park¹, Kyung Ja KJ Lee¹, Hong Jin HJ Lee¹

¹Department of Pediatrics, College of Medicine, Hallym University, Chunchon, Korea

Abstract

Maple syrup urine disease is an autosomal recessive disease caused by a deficiency of the branched-chain α-ketoacid dehydrogenase complex. The disease is often suspected because of the peculiar odor of maple syrup in urine. Maple syrup urine disease is usually confirmed by amino acid analysis and urine organic acid analysis showing marked elevations of leucine, isoleucine, valine, and respective ketoacids in blood and urine. We experienced a case of a newborn patient with maple syrup urine disease, who suffered from poor feeding, irritability, hypotonicity and generalized convulsions. She was promptly treated with peritoneal dialysis and branched-chain amino acid free diet. The patient was controlled successfully and discharged.

Keywords :Maple syrup urine disease