Indian Pediatrics

, Volume 55, Issue 1, pp 67–68 | Cite as

Creatine Transporter Deficiency in Two Brothers with Autism Spectrum Disorder

  • Halil Ibrahim Aydin
Open Access
Case Report



Creatine transporter deficiency (CTD) is a treatable, X-linked, inborn error of metabolism.

Case characteristics

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.


Creatine deficiency syndrome Inborn errors of metabolism SLC6A8 


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Copyright information

© Indian Academy of Pediatrics 2018

Authors and Affiliations

  1. 1.Department of Pediatrics, Medical Faculty, Section of Inborn Errors of MetabolismBaskent UniversityBahçelievler, AnkaraTurkey

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