A Case of Suspected Fumarase Deficiency Presenting with Persistent Mild Metabolic Acidosis in Newborn Infant.
- Author:
Doo Young CHOI
1
;
Jon Soo KIM
;
Youn Jeong SHIN
;
Ho Jin PARK
;
In Kyu LEE
Author Information
1. Department of Pediatrics, Eulji University School of Medicine, Daejoen, Korea.
- Publication Type:Case Report
- Keywords:
Fumaric aciduria;
Fumarase deficiency;
Encephalopathy;
Metabolic acidosis
- MeSH:
Acidosis*;
Citric Acid Cycle;
Fumarate Hydratase*;
Humans;
Hydrocephalus;
Infant, Newborn*;
Metabolism;
Muscle Hypotonia;
Seizures
- From:
Journal of the Korean Child Neurology Society
2005;13(2):257-261
- CountryRepublic of Korea
- Language:Korean
-
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.
