title: X-linked creatine deficiency syndrome: a novel mutation in creatine transporter gene SLC6A8.
abstract: 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.
authors.affiliation: Department of Neuroradiology, Istituto Nazionale Neurologico C. Besta, Milano, Italy.
authors.forename: Alberto
authors.initials: A
authors.lastname: Bizzi
authors.forename: Marianna
authors.initials: M
authors.lastname: Bugiani
authors.forename: Gajja S
authors.initials: GS
authors.lastname: Salomons
authors.forename: Donald H
authors.initials: DH
authors.lastname: Hunneman
authors.forename: Isabella
authors.initials: I
authors.lastname: Moroni
authors.forename: Margherita
authors.initials: M
authors.lastname: Estienne
authors.forename: Ugo
authors.initials: U
authors.lastname: Danesi
authors.forename: Cornelis
authors.initials: C
authors.lastname: Jakobs
authors.forename: Graziella
authors.initials: G
authors.lastname: Uziel
mesh_terms: D000284:Administration, Oral; D001921:Brain / Q000378:metabolism; D003401:Creatine / Q000097:blood / Q000172:deficiency* / Q000627:therapeutic use / Q000652:urine; D008040:Genetic Linkage; D006801:Humans; D007223:Infant; D009682:Magnetic Resonance Spectroscopy; D008297:Male; D026901:Membrane Transport Proteins / Q000235:genetics*; D008661:Metabolism, Inborn Errors / Q000188:drug therapy* / Q000235:genetics* / Q000378:metabolism; D009154:Mutation; D013577:Syndrome; D017211:Treatment Failure; D014960:X Chromosome / Q000235:genetics*
chemical_list: D026901:Membrane Transport Proteins; C080679:creatine transporter; D003401:Creatine