title: Treatment of intractable epilepsy in a female with SLC6A8 deficiency.
abstract: 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.
authors.affiliation: Department of Pediatrics, Division of Biochemical Diseases, British Columbia Children's Hospital, UBC, Canada.
authors.forename: Saadet
authors.initials: S
authors.lastname: Mercimek-Mahmutoglu
authors.forename: Mary B
authors.initials: MB
authors.lastname: Connolly
authors.forename: Kenneth J
authors.initials: KJ
authors.lastname: Poskitt
authors.forename: Gabriella A
authors.initials: GA
authors.lastname: Horvath
authors.forename: Noel
authors.initials: N
authors.lastname: Lowry
authors.forename: Gajja S
authors.initials: GS
authors.lastname: Salomons
authors.forename: Brett
authors.initials: B
authors.lastname: Casey
authors.forename: Graham
authors.initials: G
authors.lastname: Sinclair
authors.forename: Cynthia
authors.initials: C
authors.lastname: Davis
authors.forename: Cornelis
authors.initials: C
authors.lastname: Jakobs
authors.forename: Sylvia
authors.initials: S
authors.lastname: Stockler-Ipsiroglu
mesh_terms: D001120:Arginine / Q000627:therapeutic use*; D002648:Child; D003401:Creatine / Q000627:therapeutic use*; D004359:Drug Therapy, Combination; D004827:Epilepsy / Q000188:drug therapy* / Q000235:genetics / Q000378:metabolism*; D005260:Female; D005998:Glycine / Q000627:therapeutic use*; D006579:Heterozygote; D006801:Humans; D009419:Nerve Tissue Proteins / Q000172:deficiency* / Q000235:genetics; D050480:Plasma Membrane Neurotransmitter Transport Proteins / Q000172:deficiency* / Q000235:genetics
chemical_list: D009419:Nerve Tissue Proteins; D050480:Plasma Membrane Neurotransmitter Transport Proteins; C094770:SLC6A8 protein, human; D001120:Arginine; D003401:Creatine; D005998:Glycine