title: X-linked creatine transporter deficiency: clinical description of a patient with a novel SLC6A8 gene mutation.
abstract: Creatine transporter deficiency is an X-linked disorder characterized by mental retardation and language delay. The authors report a patient affected by creatine transport deficiency caused by a novel mutation in the SLC6A8 gene. Impairment in social interaction represents a consistent clinical finding in the few cases described to date and may be a diagnostic clue for creatine transporter deficiency in males affected by mental retardation, seizures, and language impairment.
authors.affiliation: Department of Pediatrics, G. Gaslini Institute, State University of Genoa, Genoa, Italy.
authors.forename: Maria C
authors.initials: MC
authors.lastname: Schiaffino
authors.forename: Carlo
authors.initials: C
authors.lastname: Bellini
authors.forename: Laura
authors.initials: L
authors.lastname: Costabello
authors.forename: Ubaldo
authors.initials: U
authors.lastname: Caruso
authors.forename: Cornelis
authors.initials: C
authors.lastname: Jakobs
authors.forename: Gajja S
authors.initials: GS
authors.lastname: Salomons
authors.forename: Eugenio
authors.initials: E
authors.lastname: Bonioli
mesh_terms: D004569:Electroencephalography; D017353:Gene Deletion; D006801:Humans; D007223:Infant; D008279:Magnetic Resonance Imaging; D008297:Male; D009154:Mutation; D009419:Nerve Tissue Proteins / Q000172:deficiency* / Q000235:genetics*; D050480:Plasma Membrane Neurotransmitter Transport Proteins / Q000172:deficiency* / Q000235:genetics*; D025064:Sex Chromosome Disorders / Q000235:genetics*
chemical_list: D009419:Nerve Tissue Proteins; D050480:Plasma Membrane Neurotransmitter Transport Proteins; C094770:SLC6A8 protein, human