A successfully treated adult patient with L-2-hydroxyglutaric aciduria

Neurology. 2008 Mar 25;70(13):1051-2. doi: 10.1212/01.wnl.0000287141.90944.95.
No abstract available

Publication types

  • Case Reports

MeSH terms

  • Adult
  • Age Factors
  • Alcohol Oxidoreductases / genetics*
  • Alcohol Oxidoreductases / urine
  • Brain / enzymology
  • Brain / pathology
  • Brain / physiopathology
  • Brain Diseases, Metabolic / drug therapy*
  • Brain Diseases, Metabolic / genetics
  • Brain Diseases, Metabolic / physiopathology
  • Brain Diseases, Metabolic, Inborn / drug therapy*
  • Brain Diseases, Metabolic, Inborn / genetics
  • Brain Diseases, Metabolic, Inborn / physiopathology
  • Carnitine / therapeutic use
  • Chromosomes, Human, Pair 14 / genetics*
  • Female
  • Flavin-Adenine Dinucleotide / therapeutic use
  • Genetic Markers / genetics
  • Genetic Predisposition to Disease / genetics*
  • Homozygote
  • Humans
  • Intellectual Disability / drug therapy
  • Intellectual Disability / genetics
  • Intellectual Disability / physiopathology
  • Lysine / metabolism*
  • Magnetic Resonance Imaging
  • Movement Disorders / drug therapy
  • Movement Disorders / genetics
  • Movement Disorders / physiopathology
  • Treatment Outcome

Substances

  • Genetic Markers
  • Flavin-Adenine Dinucleotide
  • Alcohol Oxidoreductases
  • L2HGDH protein, human
  • Lysine
  • Carnitine