Early Indicators of Creatine Transporter Deficiency

J Pediatr. 2019 Mar;206:283-285. doi: 10.1016/j.jpeds.2018.11.008. Epub 2018 Dec 20.


Early identification is a goal for creatine transporter deficiency and will be critical for future treatment. Before their first birthday, one-half of this sample showed both a significant feeding/weight gain issue and delayed sitting or crawling. Combined, these early indicators could have alerted providers to conduct a urine screen.

Keywords: failure to thrive; infant vomiting; motor delay.

Publication types

  • Research Support, N.I.H., Intramural
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adolescent
  • Age Factors
  • Brain Diseases, Metabolic, Inborn / complications
  • Brain Diseases, Metabolic, Inborn / diagnosis*
  • Child
  • Child, Preschool
  • Creatine / deficiency*
  • Female
  • Humans
  • Infant
  • Infant, Newborn
  • Male
  • Mental Retardation, X-Linked / complications
  • Mental Retardation, X-Linked / diagnosis*
  • Plasma Membrane Neurotransmitter Transport Proteins / deficiency*
  • Retrospective Studies
  • Risk Factors
  • Symptom Assessment
  • Urinalysis
  • Young Adult


  • Plasma Membrane Neurotransmitter Transport Proteins
  • Creatine

Supplementary concepts

  • Creatine deficiency, X-linked