| A Case of Suspected Fumarase Deficiency Presenting with Persistent Mild Metabolic Acidosis in Newborn Infant. |
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Doo Young Choi, Jon Soo Kim, Youn Jeong Shin, Ho Jin Park, In Kyu Lee |
1Department of Pediatrics, Eulji University School of Medicine, Daejoen, Korea.
2Department of Pediatrics, College of Medicine, Soonchunhyang University, Cheonan, Korea. |
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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. |
| Key Words:
Fumaric aciduria, Fumarase deficiency, Encephalopathy, Metabolic acidosis |
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