title: Screening of male patients with autism spectrum disorder for creatine transporter deficiency.
abstract: Creatine deficiency syndromes (CDS) are newly identified genetic disorders that result in neurological impairment of cognition and communication. The purpose of our study was to screen 100 male subjects with autism spectrum disorder for mutations in the SLC6A8 gene in order to determine the frequency of this genetic disorder in this population. One hundred males ages 3-18 years diagnosed with autism spectrum disorder based on DSM-IV criteria were recruited. DNA sequence analysis was performed on all subjects for creatine transporter gene (SLC6A8) defects. One subject had a novel unclassified variant in the SLC6A8 gene exon 13: c.1890G>C. Given that autistic features are found in a number of patients with CDS, SLC6A8 deficiency as well as the treatable forms of CDS should be included in the differential diagnosis of patients with autism spectrum disorder.
authors.affiliation: Division of Pediatrics, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio 45229-3039, USA. amy.newmeyer@cchmc.org
authors.forename: A
authors.initials: A
authors.lastname: Newmeyer
authors.forename: T
authors.initials: T
authors.lastname: deGrauw
authors.forename: J
authors.initials: J
authors.lastname: Clark
authors.forename: G
authors.initials: G
authors.lastname: Chuck
authors.forename: G
authors.initials: G
authors.lastname: Salomons
mesh_terms: D000293:Adolescent; D001321:Autistic Disorder / Q000175:diagnosis* / Q000378:metabolism*; D002648:Child; D002675:Child, Preschool; D005091:Exons / Q000235:genetics; D006801:Humans; D008297:Male; D026901:Membrane Transport Proteins / Q000172:deficiency* / Q000235:genetics*; D009154:Mutation / Q000235:genetics
chemical_list: D026901:Membrane Transport Proteins; C080679:creatine transporter