Adult manifestation of L-2-hydroxyglutarate dehydrogenase deficiency by a novel mutation

Neurology. 2012 Apr 10;78(15):1186-7. doi: 10.1212/WNL.0b013e31824f8033. Epub 2012 Mar 28.
No abstract available

Publication types

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

MeSH terms

  • Adult
  • Alcohol Oxidoreductases / deficiency*
  • Alcohol Oxidoreductases / genetics*
  • Brain / enzymology
  • Brain / pathology
  • Brain / physiopathology
  • Cerebellar Diseases / diet therapy
  • Cerebellar Diseases / enzymology*
  • Cerebellar Diseases / genetics*
  • Cerebellar Diseases / physiopathology
  • Cognition Disorders / etiology
  • Disease Progression
  • Female
  • Humans
  • Lysine / administration & dosage*
  • Magnetic Resonance Imaging
  • Mutation*
  • Saccades / genetics
  • Tremor / etiology

Substances

  • Alcohol Oxidoreductases
  • L2HGDH protein, human
  • Lysine