Abstract
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.
Publisher
Springer Science and Business Media LLC
Subject
Pediatrics, Perinatology, and Child Health
Cited by
10 articles.
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