Abstract
Background
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.
Outcome
Both patients were given creatine monohydrate, L-arginine, L-glycine and S-adenosylmethionine, which partially improved the behavioral problems.
Message
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.
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Aydin, H.I. Creatine Transporter Deficiency in Two Brothers with Autism Spectrum Disorder. Indian Pediatr 55, 67–68 (2018). https://doi.org/10.1007/s13312-018-1232-5
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DOI: https://doi.org/10.1007/s13312-018-1232-5