A Case of Maple Syrup Urine Disease
Journal of the Korean Pediatric Society
; : 1297-1302, 1997.
Article
in Ko
| WPRIM
| ID: wpr-174197
Responsible library:
WPRO
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.
Key words
Full text:
1
Index:
WPRIM
Main subject:
Oxidoreductases
/
Apnea
/
Phenotype
/
Respiratory Insufficiency
/
Seizures
/
Smell
/
Valine
/
Burns
/
Acer
/
Parturition
Limits:
Female
/
Humans
/
Newborn
Language:
Ko
Journal:
Journal of the Korean Pediatric Society
Year:
1997
Type:
Article