Fumarase deficiency is an autosornal recessive encephalopathy ffecting both the mitochondrial and the cytosolic enzymes

C. Gellera, G. Uziel, M. Rimoldi, M. Zeviani, A. Laverda, F. Carrara, S. Didonato

Research output: Contribution to journalArticlepeer-review

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.

Original languageEnglish
Pages (from-to)495-499
Number of pages5
JournalNeurology
Volume40
Issue number3
Publication statusPublished - 1990

ASJC Scopus subject areas

  • Arts and Humanities (miscellaneous)
  • Clinical Neurology
  • Neuroscience(all)

Fingerprint Dive into the research topics of 'Fumarase deficiency is an autosornal recessive encephalopathy ffecting both the mitochondrial and the cytosolic enzymes'. Together they form a unique fingerprint.

Cite this