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.
Artigo
em 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.
Texto completo:
DisponíveL
Índice:
WPRIM (Pacífico Ocidental)
Assunto principal:
Convulsões
/
Acidose
/
Ciclo do Ácido Cítrico
/
Fumarato Hidratase
/
Hidrocefalia
/
Metabolismo
/
Hipotonia Muscular
Limite:
Humanos
/
Recém-Nascido
Idioma:
Coreano
Revista:
Journal of the Korean Child Neurology Society
Ano de publicação:
2005
Tipo de documento:
Artigo
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