Maple syrup urine disease: case report of 2 Thai infants.
Article
in English
| IMSEAR
| ID: sea-42649
ABSTRACT
Maple syrup urine disease (MSUD) is a rare inborn error of metabolism characterized by typical urine odor. The deficiency of branched-chain ketoacid decarboxylase enzyme is responsible for the clinical abnormalities. The classical disease usually manifests in the neonatal period with lethargy, refused feeding, seizures and death. Since 1984, at the Department of Pediatrics, Ramathibodi hospital, 2 patients with classical MSUD have been seen. The parents of one patient were relatives and already had 2 affected but undiagnosed daughters. Both patients had strong urine odor which was described as the odor of boiled Chinese herbal medicine. The first child died at 4 months old and the second was severely retarded at one year old. The importance of early diagnosis and genetic counselling are emphasized.
Full text:
Available
Index:
IMSEAR (South-East Asia)
Main subject:
Pedigree
/
Thailand
/
Female
/
Humans
/
Infant
/
Maple Syrup Urine Disease
Type of study:
Screening study
Country/Region as subject:
Asia
Language:
English
Year:
1989
Type:
Article
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