Creatine transporter deficiency: prevalence among patients with mental retardation and pitfalls in metabolite screening

Clin Biochem. 2007 Nov;40(16-17):1328-31. doi: 10.1016/j.clinbiochem.2007.07.010. Epub 2007 Aug 10.


Objectives: To report the prevalence of creatine transporter deficiency in males with mental retardation and to study whether a protein-rich food intake might be a potential diagnostic pitfall.

Design and methods: We determined creatine/creatinine ratio in urine samples from 1600 unrelated male patients with mental retardation and/or autism. Urine creatine was analyzed by HPLC-MS/MS.

Results: Thirty-three of 1600 cases showed increased urine creatine/creatinine ratio. Four out of these thirty-three cases were definitively diagnosed with creatine transporter deficiency, while the other 29 were false positive results. Significantly higher values were observed for urine Cr/Crn ratio in healthy volunteers after a meal based on beef or oily fish as compared to eggs, pasta or salad (Wilcoxon test: p<0.005).

Conclusions: False positive results may be observed in biochemical screening for creatine transporter deficiency, and they may be due to intake of meals rich in creatine prior to urine samples analysis.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Autistic Disorder / genetics
  • Autistic Disorder / urine
  • Child
  • Child, Preschool
  • Creatine / urine
  • Creatinine / urine
  • Glycine / analogs & derivatives
  • Glycine / metabolism
  • Humans
  • Infant
  • Intellectual Disability / genetics
  • Intellectual Disability / urine*
  • Male
  • Mass Screening / methods*
  • Membrane Transport Proteins / deficiency*
  • Membrane Transport Proteins / genetics
  • Metabolism, Inborn Errors / diagnosis*
  • Metabolism, Inborn Errors / genetics
  • Metabolism, Inborn Errors / metabolism
  • Reproducibility of Results
  • Sensitivity and Specificity


  • Membrane Transport Proteins
  • creatine transporter
  • Creatinine
  • glycocyamine
  • Creatine
  • Glycine