Treatment of intractable epilepsy in a female with SLC6A8 deficiency

Mol Genet Metab. 2010 Dec;101(4):409-12. doi: 10.1016/j.ymgme.2010.08.016. Epub 2010 Aug 26.


A female heterozygous for a novel, disease causing, missense mutation in the X-linked cerebral creatine transporter (SLC6A8) gene (c.1067G>T, p.Gly356Val) presented with intractable epilepsy, mild intellectual disability and moderately reduced cerebral creatine levels. Treatment with creatine monohydrate, to enhance cerebral creatine transport, combined with L-arginine and L-glycine, to enhance cerebral creatine synthesis, resulted in complete resolution of seizures. Heterozygous SLC6A8 deficiency is a potentially treatable condition and should be considered in females with intractable epilepsy and developmental delay/intellectual disability.

Publication types

  • Case Reports

MeSH terms

  • Arginine / therapeutic use*
  • Child
  • Creatine / therapeutic use*
  • Drug Therapy, Combination
  • Epilepsy / drug therapy*
  • Epilepsy / genetics
  • Epilepsy / metabolism*
  • Female
  • Glycine / therapeutic use*
  • Heterozygote
  • Humans
  • Nerve Tissue Proteins / deficiency*
  • Nerve Tissue Proteins / genetics
  • Plasma Membrane Neurotransmitter Transport Proteins / deficiency*
  • Plasma Membrane Neurotransmitter Transport Proteins / genetics


  • Nerve Tissue Proteins
  • Plasma Membrane Neurotransmitter Transport Proteins
  • SLC6A8 protein, human
  • Arginine
  • Creatine
  • Glycine