Creatine deficiency syndromes: diagnostic pearls and pitfalls

Can J Neurol Sci. 2011 Sep;38(5):765-7. doi: 10.1017/s0317167100054160.
No abstract available

Publication types

  • Case Reports

MeSH terms

  • Adult
  • Brain Diseases, Metabolic, Inborn / blood
  • Brain Diseases, Metabolic, Inborn / diagnosis*
  • Chromatography, Liquid / methods
  • Creatine / blood*
  • Creatine / deficiency
  • Female
  • Guanidinoacetate N-Methyltransferase / deficiency
  • Humans
  • Plasma Membrane Neurotransmitter Transport Proteins / blood
  • Plasma Membrane Neurotransmitter Transport Proteins / deficiency
  • Spectrometry, Mass, Electrospray Ionization / methods
  • X-Linked Intellectual Disability / blood
  • X-Linked Intellectual Disability / diagnosis*

Substances

  • Plasma Membrane Neurotransmitter Transport Proteins
  • GAMT protein, human
  • Guanidinoacetate N-Methyltransferase
  • Creatine

Supplementary concepts

  • Creatine deficiency, X-linked