Maple syrup urine disease: case report of 2 Thai infants.
Artigo
em Inglês
| 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.
Texto completo:
DisponíveL
Índice:
IMSEAR (Sudeste Asiático)
Assunto principal:
Linhagem
/
Tailândia
/
Feminino
/
Humanos
/
Lactente
/
Doença da Urina de Xarope de Bordo
Tipo de estudo:
Estudo de rastreamento
País/Região como assunto:
Ásia
Idioma:
Inglês
Ano de publicação:
1989
Tipo de documento:
Artigo
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