A CASE OF ABNORMAL EXCRETION OF FUMARIC ACID AND OTHER METABOLITES OF TRICARBOXYLIC ACID CYCLE IN ACUTE ENCEPHALOPATHY

Abstract

We have quantitatively analyzed organic acids in urine and plasma from a patient with acute encephalopathy. The patient was a 10-month-old boy, good psychomotor developement until 9 months of life, who developed a common cold and fever, unconsciousness, tonic convulsion, and was admitted to the Department of Pediatrics at Osaka National Hospital. The analysis of organic acids by gas chromatography/mass spectrometry revealed abnormal excretion of fumaric acid and other metabolites of tricarboxylic acid cycle at onset. The profiles of organic acids from acute encephalopathy were usually lactic acidemia, ketotic dicarboxylic acidurias.
But the profiles of this patient showed an unusual pattern and would be the same as fumarase deficiency although we did not measure the activities of mitochondrial or cytoplasmic fumarase.