A Case of Maple Syrup Urine Disease.
- Author:
Dong Hyun CHO
1
;
Hyun Mi LEE
;
Soon Young KIM
;
Chang Soo RA
Author Information
1. Department of Pediatrics, Seoul Eulji General Hospital, Seoul, Korea.
- Publication Type:Case Report
- Keywords:
Maple syrup urine disease;
Classic type
- MeSH:
Acer*;
Amino Acids, Branched-Chain;
Apnea;
Burns;
Female;
Humans;
Infant, Newborn;
Isoleucine;
Lethargy;
Leucine;
Maple Syrup Urine Disease*;
Oxidoreductases;
Parturition;
Phenotype;
Respiratory Insufficiency;
Seizures;
Smell;
Valine
- From:Journal of the Korean Pediatric Society
1997;40(9):1297-1302
- CountryRepublic of Korea
- Language:Korean
-
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.
