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.
Article
in Korean
| 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.
Full text:
Available
Index:
WPRIM (Western Pacific)
Main subject:
Seizures
/
Acidosis
/
Citric Acid Cycle
/
Fumarate Hydratase
/
Hydrocephalus
/
Metabolism
/
Muscle Hypotonia
Limits:
Humans
/
Infant, Newborn
Language:
Korean
Journal:
Journal of the Korean Child Neurology Society
Year:
2005
Type:
Article
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