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Fumarase deficiency is an autosomal recessive encephalopathy affecting both the mitochondrial and the cytosolic enzymes

Division of Biochemistry and Genetics (Dn. Uziel, Zeviani, and Di Donato, and C. Gellera, M. Rimoldi, and F. Carrara), Istituto Neurologico "C. Besta," Milano, and Department of Pediatrics (Dr. Laverda), University of Padova, Italy.

A 7-month-old boy died in a demented state after a clinical history characterized by generalized seizures, psychomotor deterioration, and fumaric aciduria. We found a marked deficiency of both mitochondrial and cytosolic fumarases in skeletal muscle, brain, cerebellum, heart, kidney, liver, and cultured fibroblasts. Fumarase activities were 30 to 50% compared with controls in both mitochondria and cytosol from cultured fibroblasts of the parents. Antifumarase cross-reacting material was present in negligible amounts in the patient's tissues. Our data indicate that this disease is an autosomal recessive encephalopathy, due to a single mutation affecting the gene encoding both forms of the enzyme.

Address correspondence and reprint requests to Dr. Stefano DiDonato, Division of Biochemistry and Genetics, Istituto Neurologico "C. Besta," via Celoria 11,20133, Milano, Italy.

Presented in part at the 41st annual meeting of the American Academy of Neurology, Chicago, IL, April 1989. Supported in part by A.R.I.N., Associazione per la promozione delle Ricerche Neurologiche, Milano, Italy. Received January 27, 1989. Accepted for publication in final form August 25,1989.

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