3-Methylglutaconic aciduria type I causes leukoencephalopathy of adult onset

Neurology. 2006 Nov 28;67(10):1895-6. doi: 10.1212/01.wnl.0000244467.01362.54.
No abstract available

Publication types

  • Case Reports

MeSH terms

  • Amino Acid Metabolism, Inborn Errors / genetics
  • Amino Acid Metabolism, Inborn Errors / metabolism
  • Amino Acid Metabolism, Inborn Errors / physiopathology
  • Brain / metabolism*
  • Brain / pathology
  • Brain / physiopathology
  • Brain Diseases, Metabolic, Inborn / genetics
  • Brain Diseases, Metabolic, Inborn / metabolism*
  • Brain Diseases, Metabolic, Inborn / physiopathology
  • Cognition Disorders / genetics
  • Cognition Disorders / metabolism
  • Cognition Disorders / physiopathology
  • DNA Mutational Analysis
  • Dementia, Vascular / genetics
  • Dementia, Vascular / metabolism*
  • Dementia, Vascular / physiopathology
  • Enoyl-CoA Hydratase / genetics
  • Female
  • Glutarates / urine*
  • Humans
  • Magnetic Resonance Imaging
  • Middle Aged
  • Mutation / genetics
  • Nerve Fibers, Myelinated / pathology
  • RNA-Binding Proteins / genetics
  • Reflex, Abnormal / physiology

Substances

  • Glutarates
  • RNA-Binding Proteins
  • 3-methylglutaconic acid
  • AUH protein, human
  • Enoyl-CoA Hydratase