What is it?

Creatine transporter deficiency is a genetic disorder resulting when the body can’t transport creatine, a major source of energy, to cells. Creatine is an essential metabolite for normal brain, heart, and muscle function. CTD is one of the three cerebral creatine deficiency syndromes (CCDS).

What causes it?

CTD is caused by mutations in the SLC6A8 gene. SLC6A8 is the gene that gives instructions to the body to make a protein that brings creatine to tissues and organs that need it. Without creatine, cells cannot store or use energy properly.1

What are some of the common symptoms?

  • Features similar to autism
  • Behavioral problems
  • Cognitive (brain) impairment
  • Low muscle tone
  • Motor skill delays
  • Seizures
  • Speech/language developmental delays
  • Poor growth (failure to thrive)

How many people have it?

More than 150 individuals with creatine deficiency have been identified worldwide, but the prevalence of CTD is unknown.1

Common names for CTD

  • SLC6A8 deficiency
  • Creatine transporter defect
  • X-linked creatine deficiency syndrome

1X-linked creatine deficiency. National Institutes of Health: Genetics Home Reference website https://ghr.nlm.nih.gov/condition/x-linked-creatine-deficiency . Published May 28, 2019. Accessed June 6, 2019.

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