X-linked creatine deficiency syndrome: a novel mutation in creatine transporter gene SLC6A8

Ann Neurol. 2002 Aug;52(2):227-31. doi: 10.1002/ana.10246.


Among creatine deficiency syndromes, an X-linked condition related to a defective creatine transport into the central nervous system has been described recently. Hallmarks of the disease are the absence of a creatine signal at brain spectroscopy, increased creatine levels in blood and urine, ineffectiveness of oral supplementation, and a mutation in the SLC6A8 (Online Mendelian Inheritance in Man [OMIM] 300036) creatine transporter gene. We report on a patient in whom a novel mutation (1221-1223delTTC) was identified.

Publication types

  • Case Reports

MeSH terms

  • Administration, Oral
  • Brain / metabolism
  • Creatine / blood
  • Creatine / deficiency*
  • Creatine / therapeutic use
  • Creatine / urine
  • Genetic Linkage*
  • Humans
  • Infant
  • Magnetic Resonance Spectroscopy
  • Male
  • Membrane Transport Proteins / genetics*
  • Metabolism, Inborn Errors / drug therapy*
  • Metabolism, Inborn Errors / genetics*
  • Metabolism, Inborn Errors / metabolism
  • Mutation*
  • Syndrome
  • Treatment Failure
  • X Chromosome / genetics*


  • Membrane Transport Proteins
  • creatine transporter
  • Creatine

Associated data

  • OMIM/601240