title: A novel SLC6A8 mutation associated with motor dysfunction in a child exhibiting creatine transporter deficiency.
abstract: Creatine transporter (CT) deficiency is an X-linked disorder caused by mutations in the SLC6A8 gene. We describe a clinical, biochemical and molecular examination of a child with X-linked cerebral creatine deficiency. Increased urinary creatine/creatinine ratio, abnormal brain proton magnetic resonance spectroscopy and reduced creatine transport confirmed the clinical diagnosis. SLC6A8 analysis revealed a novel mutation that was hemizygous in the child and not detected in his mother. CT deficiency should be considered in children, especially males, with mental retardation.
authors.affiliation: Molecular Diagnostics Laboratory, Center for Biomedical Research (CIBIR), Fundacion Rioja Salud , Logroño, Spain.
authors.forename: Cristina
authors.initials: C
authors.lastname: Cervera-Acedo
authors.affiliation: Molecular Diagnostics Laboratory, Center for Biomedical Research (CIBIR), Fundacion Rioja Salud , Logroño, Spain.
authors.forename: Maria
authors.initials: M
authors.lastname: Lopez
authors.affiliation: Molecular Diagnostics Laboratory, Center for Biomedical Research (CIBIR), Fundacion Rioja Salud , Logroño, Spain.
authors.forename: Jana
authors.initials: J
authors.lastname: Aguirre-Lamban
authors.affiliation: Molecular Diagnostics Laboratory, Center for Biomedical Research (CIBIR), Fundacion Rioja Salud , Logroño, Spain.
authors.forename: Paula
authors.initials: P
authors.lastname: Santibañez
authors.affiliation: Department of Pediatrics, San Pedro Hospital , Logroño, Spain.
authors.forename: Alberto
authors.initials: A
authors.lastname: Garcia-Oguiza
authors.affiliation: Department of Pediatrics, San Pedro Hospital , Logroño, Spain.
authors.forename: Maria Luisa
authors.initials: ML
authors.lastname: Poch-Olive
authors.affiliation: Molecular Diagnostics Laboratory, Center for Biomedical Research (CIBIR), Fundacion Rioja Salud , Logroño, Spain.
authors.forename: Elena
authors.identifier: 0000-0002-2066-0511
authors.initials: E
authors.lastname: Dominguez-Garrido