Isovaleric Acidemia in Siblings Diagnosed by Organic Acid Analysis
Journal of the Korean Pediatric Society
;
: 828-831, 2000.
Artículo
en Coreano
| WPRIM
| ID: wpr-50289
ABSTRACT
Isovaleric acidemia is an inborn error in metabolism due to a defect in isovaleryl-CoA dehydrogenase. Accumulation of serum isovaleric acid causes poor feeding, vomiting, lethargy, hypothermia, convulsion, mental retardation, etc. It is inherited as an autosomal recessive trait. Since the first reports of isovaleric acidemia by Tanaka et al in 1966, more than 60 cases have been reported. There are two clinically different presentations of isovaleric acidemia, with about half the patients presenting with an acute severe neonatal form and about half with a chronic intermittent forrn. The difference in clinical presentation may not be a consequence of differing severities of the causative mutation, but a result of the timing of application of catabolic stress or the ability to form isovalerylglycine. We described here clinical and organic acid analytical findings of brothers with chronic intermittent form of isovaleric acidemia. (J Korean Pediatr Soc 2000;43828-831)
Texto completo:
Disponible
Índice:
WPRIM (Pacífico Occidental)
Asunto principal:
Convulsiones
/
Vómitos
/
Hermanos
/
Isovaleril-CoA Deshidrogenasa
/
Letargia
/
Hipotermia
/
Discapacidad Intelectual
/
Metabolismo
Tipo de estudio:
Estudio diagnóstico
Límite:
Humanos
Idioma:
Coreano
Revista:
Journal of the Korean Pediatric Society
Año:
2000
Tipo del documento:
Artículo
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