| A Case of Maple Syrup Urine Disease Controlled by Peritoneal Dialysis and Diet |
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Ju Wan Kim, June Huh, Won Il Park, Kyung Ja Lee, Hong Jin Lee |
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Department of Pediatrics, College of Medicine, Hallym University, Chunchon, Korea |
| 복막투석과 식이요법으로 조절된 단풍당뇨증 1례 |
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김주완, 허 준, 박원일, 이경자, 이홍진 |
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한림대학교 의과대학 소아과학교실 |
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| Abstract |
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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. |
| Key Words:
Maple syrup urine disease |
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