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.
MeSH terms
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Adolescent
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Arginine / therapeutic use
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Autism Spectrum Disorder* / complications
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Autism Spectrum Disorder* / physiopathology
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Brain Diseases, Metabolic, Inborn* / complications
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Brain Diseases, Metabolic, Inborn* / drug therapy
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Brain Diseases, Metabolic, Inborn* / genetics
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Brain Diseases, Metabolic, Inborn* / physiopathology
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Child
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Creatine / deficiency*
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Creatine / genetics
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Creatine / therapeutic use
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Glycine / therapeutic use
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Humans
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Male
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Mental Retardation, X-Linked* / complications
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Mental Retardation, X-Linked* / drug therapy
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Mental Retardation, X-Linked* / genetics
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Mental Retardation, X-Linked* / physiopathology
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Nerve Tissue Proteins
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Plasma Membrane Neurotransmitter Transport Proteins / deficiency*
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Plasma Membrane Neurotransmitter Transport Proteins / genetics
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S-Adenosylmethionine / therapeutic use
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Siblings
Substances
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Nerve Tissue Proteins
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Plasma Membrane Neurotransmitter Transport Proteins
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SLC6A8 protein, human
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S-Adenosylmethionine
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Arginine
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Creatine
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Glycine
Supplementary concepts
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Creatine deficiency, X-linked