Treatment of intractable epilepsy in a female with SLC6A8 deficiency.
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.
Mercimek-Mahmutoglu
Saadet
S
Department of Pediatrics, Division of Biochemical Diseases, British Columbia Children's Hospital, UBC, Canada.
Connolly
Mary B
MB
Poskitt
Kenneth J
KJ
Horvath
Gabriella A
GA
Lowry
Noel
N
Salomons
Gajja S
GS
Casey
Brett
B
Sinclair
Graham
G
Davis
Cynthia
C
Jakobs
Cornelis
C
Stockler-Ipsiroglu
Sylvia
S
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
D009419:Nerve Tissue Proteins; D050480:Plasma Membrane Neurotransmitter Transport Proteins; C094770:SLC6A8 protein, human; D001120:Arginine; D003401:Creatine; D005998:Glycine