Leigh's disease due to a new mutation in the PDHX gene

Ann Neurol. 2006 Apr;59(4):709-14. doi: 10.1002/ana.20818.

Abstract

Objective: To describe the clinical course, neuroradiological presentation, biochemical and molecular studies of a new patient with pyruvate dehydrogenase complex (PDHc) deficiency. To compare this case with the data on other published cases.

Methods: Brain magnetic resonance imaging (MRI), basal metabolic investigations with lactate measurements in body fluids, PDHc activity assay on cultured skin fibroblasts, immunoblot analysis and molecular studies (polymerase chain reaction [PCR] and sequencing procedures).

Results: Our patient accused an unspecific encephalopathy for years and presented at 13 years of age an acute deterioration with basal ganglia necrosis and subcortical white matter involvement. PDHc deficiency was secondary to a large deletion (3913 bp) in the PDHX gene, which encodes E3 binding protein (E3BP) subunit.

Interpretation: These data provide an additional case of E3BP deficiency with a unique and previously unreported deletion in the PDHX gene.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adolescent
  • Blotting, Western / methods
  • DNA Mutational Analysis
  • Female
  • Genetic Linkage*
  • Humans
  • Leigh Disease / genetics*
  • Leigh Disease / pathology
  • Magnetic Resonance Imaging / methods
  • Mutation*
  • Pyruvate Dehydrogenase Complex / genetics*
  • RNA, Messenger / biosynthesis
  • Reverse Transcriptase Polymerase Chain Reaction / methods
  • Review Literature as Topic

Substances

  • PDHX protein, human
  • Pyruvate Dehydrogenase Complex
  • RNA, Messenger