Creatine Transporter Deficiency in Two Brothers with Autism Spectrum Disorder

Indian Pediatr. 2018 Jan 15;55(1):67-68.

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.

Publication types

  • Case Reports

MeSH terms

  • Adolescent
  • Arginine / therapeutic use
  • Autism Spectrum Disorder* / complications
  • Autism Spectrum Disorder* / physiopathology
  • Brain Diseases, Metabolic, Inborn* / complications
  • Brain Diseases, Metabolic, Inborn* / drug therapy
  • Brain Diseases, Metabolic, Inborn* / genetics
  • Brain Diseases, Metabolic, Inborn* / physiopathology
  • Child
  • Creatine / deficiency*
  • Creatine / genetics
  • Creatine / therapeutic use
  • Glycine / therapeutic use
  • Humans
  • Male
  • Mental Retardation, X-Linked* / complications
  • Mental Retardation, X-Linked* / drug therapy
  • Mental Retardation, X-Linked* / genetics
  • Mental Retardation, X-Linked* / physiopathology
  • Nerve Tissue Proteins
  • Plasma Membrane Neurotransmitter Transport Proteins / deficiency*
  • Plasma Membrane Neurotransmitter Transport Proteins / genetics
  • S-Adenosylmethionine / therapeutic use
  • Siblings

Substances

  • Nerve Tissue Proteins
  • Plasma Membrane Neurotransmitter Transport Proteins
  • SLC6A8 protein, human
  • S-Adenosylmethionine
  • Arginine
  • Creatine
  • Glycine

Supplementary concepts

  • Creatine deficiency, X-linked