Aydin, Halil Ibrahim2019-05-222019-05-2220180019-6061https://link.springer.com/content/pdf/10.1007%2Fs13312-018-1232-5.pdfhttp://hdl.handle.net/11727/3295Creatine transporter deficiency (CTD) is a treatable, X-linked, inborn error of metabolism. Two brothers with autism spectrum disorder were diagnosed with CTD at the ages of 17 and 12 years. Both were found to have a previously reported hemizygous p.408delF (c.1216_1218delTTC) deletion mutation. Both patients were given creatine monohydrate, L-arginine, L-glycine and S-adenosylmethionine, which partially improved the behavioral problems. Serum creatinine levels, creatine peak at brain MR spectroscopy or creatine/creatinine ratio in urine should be evaluated to identify CTD in children with autistic behavior and language disorders.enginfo:eu-repo/semantics/openAccessCreatine deficiency syndromeInborn errors of metabolismSLC6A8article55167680004276075000142-s2.0-85043987126