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KMID : 0391520050130020257
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Journal of the Korean Child Neurology Society
2005 Volume.13 No. 2 p.257 ~ p.261
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A Case of Suspected Fumarase Deficiency Presenting with Persistent Mild Metabolic Acidosis in Newborn Infant
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Choi Doo-Young
Kim Jon-Soo
Shin Youn-Jeong
Park Ho-Jin
Lee In-Kyu
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Abstract
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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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KEYWORD
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Fumaric aciduria, Fumarase deficiency, Encephalopathy, Matabolic acidosis
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