J Korean Pediatr Soc.
1997 Sep;40(9):1297-1302.
A Case of Maple Syrup Urine Disease
- Affiliations
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- 1Department of Pediatrics, Seoul Eulji General Hospital, Seoul, Korea.
Abstract
- Maple syrup urine disease (MSUD) is an autosomal recessive disease caused by a deficiency in subunits of the branched-chain alpha-ketoacid dehydrogenase complex (BCKDH). The disease is characterized by the accumulation of the branched-chain amino acids leucine, isoleucine, valine, alloisoleucine, and their corresponding alpha-ketoacid in blood and urine. MSUD is a heterogenous disorder, and classic, intermittent, intermediate and thiamine-responsive phenotypes have been identified. We experienced a case of Maple syrup urine disease (classic type) in a female neonate, who suffered from lethargy, poor feeding, apnea, alternating periods of hypertonicity and flaccidity, generalized convulsions, and a peculiar burned sugar smell from the body and urine. She died of respiratory failure 22 days after the birth. The brief review of the literature was made.
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