Reversible brain creatine deficiency in two sisters with normal blood creatine level

Ann Neurol. 2000 Apr;47(4):511-3.


We describe a new creatine metabolism disorder in 2 young sisters who suffered from mental retardation and severe language delay. Blood examination, investigation of the most common neurometabolic disorders, and brain magnetic resonance imaging were normal. Diagnosis was established only by means of in vivo proton magnetic resonance spectroscopy, which disclosed generalized depletion of creatine in the brain. Creatine monohydrate oral administration led to almost complete brain creatine level restoration along with improvement of the patients' disabilities.

Publication types

  • Case Reports

MeSH terms

  • Brain Chemistry*
  • Brain Diseases, Metabolic / diagnosis
  • Brain Diseases, Metabolic / drug therapy
  • Brain Diseases, Metabolic / metabolism*
  • Child
  • Child, Preschool
  • Creatine / administration & dosage
  • Creatine / blood*
  • Creatine / deficiency*
  • Family Health
  • Female
  • Humans
  • Intellectual Disability / diagnosis
  • Intellectual Disability / drug therapy
  • Intellectual Disability / metabolism
  • Magnetic Resonance Imaging
  • Nuclear Family
  • Treatment Outcome


  • Creatine