Arginine:glycine amidinotransferase deficiency: a treatable metabolic encephalomyopathy

Neurology. 2010 Jul 13;75(2):186-8. doi: 10.1212/WNL.0b013e3181e7cabd.
No abstract available

Publication types

  • Case Reports

MeSH terms

  • Adult
  • Amidinotransferases / deficiency*
  • Amidinotransferases / genetics
  • Creatine / therapeutic use*
  • Female
  • Humans
  • Male
  • Metabolism, Inborn Errors / drug therapy*
  • Pedigree

Substances

  • Amidinotransferases
  • glycine amidinotransferase
  • Creatine