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

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.

• Authors: C Gellera, G Uziel, M Rimoldi, M Zeviani, A Laverda, F Carrara, S DiDonato
• Journal: Neurology (Neurology) Vol. 40 Issue 3 Pt 1 Pg. 495-9 (Mar 1990) ISSN: 0028-3878 [Print] United States
• PMID: 2314594 (Publication Type: Case Reports, Journal Article, Research Support, Non-U.S. Gov't)

Chemical References

• Acids
• Isoenzymes
• Fumarate Hydratase
• Carnitine

Topics

• Acids (blood, urine)
• Blotting, Western
• Brain Diseases, Metabolic (enzymology, genetics)
• Carnitine (blood, urine)
• Chromatography, Gas
• Chromosome Aberrations (metabolism)
• Chromosome Disorders
• Cytosol (enzymology, metabolism)
• Fumarate Hydratase (deficiency)
• Genes, Recessive
• Humans
• Infant
• Isoenzymes (metabolism)
• Male
• Mitochondria (enzymology, metabolism)