J Korean Pediatr Soc.
2001 Jan;44(1):94-98.
A Case of Maple Syrup Urine Disease Controlled by Peritoneal Dialysis and Diet
- Affiliations
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- 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 alpa-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.
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