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A Case of Suspected Fumarase Deficiency Presenting with Persistent Mild Metabolic Acidosis in Newborn Infant / 대한소아신경학회지
Journal of the Korean Child Neurology Society ; (4): 257-261, 2005.
Artículo en Coreano | WPRIM | ID: wpr-96609
ABSTRACT
Fumaric aciduria(fumarase deficiency) is a rare inborn error of metabolism resulted from a deficiency of fumarase, one of the constituent enzymes of the Krebs tricarboxylic acid cycle. Enzyme deficiency causes excessive urinary excretion of fumaric acid due to a defective conversion of fumaric acid to malic acid. It usually presents early in infancy with a severe encephalopathy including hypotonia, developmental retardation and frequent seizures. We report a case of suspected fumarase deficiency presenting with persistent mild metabolic acidosis associated with moderate hydrocephalus in a newborn infant.
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Texto completo: Disponible Índice: WPRIM (Pacífico Occidental) Asunto principal: Convulsiones / Acidosis / Ciclo del Ácido Cítrico / Fumarato Hidratasa / Hidrocefalia / Metabolismo / Hipotonía Muscular Límite: Humanos / Recién Nacido Idioma: Coreano Revista: Journal of the Korean Child Neurology Society Año: 2005 Tipo del documento: Artículo

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Texto completo: Disponible Índice: WPRIM (Pacífico Occidental) Asunto principal: Convulsiones / Acidosis / Ciclo del Ácido Cítrico / Fumarato Hidratasa / Hidrocefalia / Metabolismo / Hipotonía Muscular Límite: Humanos / Recién Nacido Idioma: Coreano Revista: Journal of the Korean Child Neurology Society Año: 2005 Tipo del documento: Artículo