Advertisement

Journal of Inherited Metabolic Disease

, Volume 28, Issue 5, pp 799–800 | Cite as

Fumarase deficiency presenting with periventricular cysts

  • J. Loeffen
  • R. Smeets
  • T. Voit
  • G. Hoffmann
  • J. Smeitink
Short Report

Summary

A fumarase-deficient patient expressed a novel phenotype of congenital cerebral ventricular dilatation and periventricular cysts. The patient was a compound heterozygote for two mutations that are the only ones among the 12 published mutations that have been found in multiple, unrelated, fumarase-deficient patients.

Keywords

Public Health Internal Medicine Metabolic Disease Ventricular Dilatation Compound Heterozygote 
These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.

References

  1. Coughlin EM, Christensen E, Kunz PL, et al (1998) Molecular analysis and prenatal diagnosis of human fumarase deficiency. Mol Genet Metab 63(4): 254–262.CrossRefPubMedGoogle Scholar
  2. Rustin P, Bourgeron T, Parfait B, Chretien D, Munnich A, Rotig A (1997) Inborn errors of the Krebs cycle: a group of unusual mitochondrial diseases in human. Biochim Biophys Acta 1361(2): 185–197.PubMedGoogle Scholar

Copyright information

© SSIEM and Springer 2005

Authors and Affiliations

  • J. Loeffen
    • 1
    • 3
  • R. Smeets
    • 1
  • T. Voit
    • 2
  • G. Hoffmann
    • 2
  • J. Smeitink
    • 1
  1. 1.Department of PaediatricsNijmegen Centre for Mitochondrial DisordersNijmegenThe Netherlands
  2. 2.Universitätsklinikum EssenEssenGermany
  3. 3.Department of PaediatricsUniversity Medical Centre St RadboudNijmegenThe Netherlands

Personalised recommendations