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

TitleFumarase deficiency is an autosomal recessive encephalopathy affecting both the mitochondrial and the cytosolic enzymes.
Publication TypeJournal Article
Year of Publication1990
AuthorsGellera, C, Uziel, G, Rimoldi, M, Zeviani, M, Laverda, A, Carrara, F, DiDonato, S
JournalNeurology
Volume40
Issue3 Pt 1
Pagination495-9
Date Published1990 Mar
ISSN0028-3878
KeywordsAcids, Blotting, Western, Brain Diseases, Metabolic, Carnitine, Chromatography, Gas, Chromosome Aberrations, Chromosome Disorders, Cytosol, Fumarate Hydratase, Genes, Recessive, Humans, Infant, Isoenzymes, Male, Mitochondria
Abstract

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.

DOI10.1212/wnl.40.3_part_1.495
Alternate JournalNeurology
Citation Key10.1212/wnl.40.3_part_1.495
PubMed ID2314594