J Korean Child Neurol Soc.
2005 Nov;13(2):257-261.
A Case of Suspected Fumarase Deficiency Presenting with Persistent Mild Metabolic Acidosis in Newborn Infant
- Affiliations
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- 1Department of Pediatrics, Eulji University School of Medicine, Daejoen, Korea.
- 2Department of Pediatrics, College of Medicine, Soonchunhyang University, Cheonan, Korea.
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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