Novel ETFDH mutation and imaging findings in an adult with glutaric aciduria type II

Muscle Nerve. 2014 Mar;49(3):446-50. doi: 10.1002/mus.23979. Epub 2014 Jan 31.

Abstract

Introduction: Glutaric aciduria type II (GAII) is a rare autosomal recessive disorder with variable clinical course. The disorder is caused by a defect in the mitochondrial electron transfer flavoprotein or the electron transfer flavoprotein dehydrogenase (ETFDH).

Methods: We performed clinical characterization, brain and whole body MRI, muscle histopathology, and genetic analysis of the ETFDH gene in a young woman.

Results: She presented with rhabdomyolysis and severe quadriparesis. We identified a novel homozygous missense mutation in ETFDH (c.1544G>T, p.Ser515Ile). Body fat MRI revealed a large amount of subcutaneous fat but no increase in visceral fat despite steatosis of liver and muscle. Diffusion tensor imaging (DTI) of cerebral MRI revealed reduced directionality of the white matter tracts. Histopathological findings showed lipid storage myopathy.

Conclusions: In this study, we highlight diagnostic clues and body fat MRI in this rare metabolic disorder.

Keywords: ETFDH; MRI; glutaric aciduria II; multiple acyl-coa-dehydrogenase deficiency.

Publication types

  • Case Reports

MeSH terms

  • Adult
  • Anisotropy
  • Brain / pathology
  • Diffusion Tensor Imaging
  • Electron-Transferring Flavoproteins / genetics*
  • Female
  • Humans
  • Iron-Sulfur Proteins / genetics*
  • Magnetic Resonance Imaging
  • Multiple Acyl Coenzyme A Dehydrogenase Deficiency / diagnosis
  • Multiple Acyl Coenzyme A Dehydrogenase Deficiency / genetics*
  • Multiple Acyl Coenzyme A Dehydrogenase Deficiency / physiopathology
  • Mutation / genetics*
  • Oxidoreductases Acting on CH-NH Group Donors / genetics*
  • Whole Body Imaging

Substances

  • Electron-Transferring Flavoproteins
  • Iron-Sulfur Proteins
  • Oxidoreductases Acting on CH-NH Group Donors
  • electron-transferring-flavoprotein dehydrogenase