Fumaric aciduria is characterised by early onset but non-specific clinical signs: hypotonia, psychomotor retardation, convulsions, respiratory distress, frequent cerebral malformations and polyhydramnios. The disease is caused by fumarase deficiency: fumarase catalyses the transformation of fumarate into malate in the Krebs cycle. It is transmitted as an autosomal recessive trait. Chromatography of organic acids evidences the excreted fumaric acid, often associated with succinic acid and alphacetoglutaric acid. Hyperlactacidemia and moderate hyperammonemia are other common findings. Diagnosis can be confirmed by measuring fumarase in leukocytes or cultured fibroblasts. There is no efficient treatment, but prenatal diagnosis is available.
Last update: March 2004