title: Novel ETFDH mutation and imaging findings in an adult with glutaric aciduria type II.
abstract: BACKGROUND
  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.
authors.affiliation: Department of Neurology, University of Ulm, Oberer Eselsberg 45, 89081, Ulm, Germany.
authors.forename: Angela
authors.initials: A
authors.lastname: Rosenbohm
authors.forename: Sigurd D
authors.initials: SD
authors.lastname: Süssmuth
authors.forename: Jan
authors.initials: J
authors.lastname: Kassubek
authors.forename: Hans-Peter
authors.initials: HP
authors.lastname: Müller
authors.forename: Christina
authors.initials: C
authors.lastname: Pontes
authors.forename: Angela
authors.initials: A
authors.lastname: Abicht
authors.forename: Stefanie
authors.initials: S
authors.lastname: Bulst
authors.forename: Albert C
authors.initials: AC
authors.lastname: Ludolph
authors.forename: Elmar
authors.initials: E
authors.lastname: Pinkhardt
mesh_terms: D000328:Adult; D016880:Anisotropy; D001921:Brain / Q000473:pathology; D056324:Diffusion Tensor Imaging; D044927:Electron-Transferring Flavoproteins / Q000235:genetics*; D005260:Female; D006801:Humans; D007506:Iron-Sulfur Proteins / Q000235:genetics*; D008279:Magnetic Resonance Imaging; D054069:Multiple Acyl Coenzyme A Dehydrogenase Deficiency / Q000175:diagnosis / Q000235:genetics* / Q000503:physiopathology; D009154:Mutation / Q000235:genetics*; D000587:Oxidoreductases Acting on CH-NH Group Donors / Q000235:genetics*; D051598:Whole Body Imaging
chemical_list: D044927:Electron-Transferring Flavoproteins; D007506:Iron-Sulfur Proteins; D000587:Oxidoreductases Acting on CH-NH Group Donors; C023120:electron-transferring-flavoprotein dehydrogenase
keywords: ETFDH; MRI; glutaric aciduria II; multiple acyl-coa-dehydrogenase deficiency