Neuropediatrics 2007; 38(6): 310-312
DOI: 10.1055/s-2008-1065353
Short Communication

© Georg Thieme Verlag KG Stuttgart · New York

Screening of Male Patients with Autism Spectrum Disorder for Creatine Transporter Deficiency

A. Newmeyer 1 , T. deGrauw 2 , J. Clark 3 , G. Chuck 2 , G. Salomons 4
  • 1Division of Pediatrics, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio, USA
  • 2Division of Neurology, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio, USA
  • 3Department of Neurology, University of Cincinnati, Cincinnati, Ohio, USA
  • 4Department of Clinical Chemistry, VU University Medical Center, Amsterdam, The Netherlands
Weitere Informationen


received 20.05.2007

accepted 26.02.2008

06. Mai 2008 (online)


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.



A. Newmeyer, MD 

Department of Pediatrics

Cincinnati Children's Hospital Medical Center

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45229-3039 Ohio


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