Understanding Creatine Transporter Deficiency

CTD is a rare genetic condition affecting 1 in 200,000 newborns. It prevents creatine - essential for brain development and function - from reaching the brain, leading to developmental delays, intellectual disabilities, and seizures. Early diagnosis and intervention are crucial for improving outcomes.

Key Facts:

  • Missing developmental milestones

  • Speech Delays

  • Autism Features

  • Low Weight

  • Seizures

  • Low Muscle tone

About Creatine Transporter Deficiency

CTD is also referred to as SLC6A8 Deficiency, CRTR, and X-linked Creatine Transporter Deficiency.Mutations in the SLC6A8 gene result in CTD.
While patients with CTD have the necessary AGAT and GAMT enzymes to form creatine, the creatine transporter does not function properly. This results in creatine in the bloodstream, but not in the brain and muscles.
Courtesy of Association for Creatine Deficiencies @ creatineinfo.org

How To Test for CTD

If your child is displaying any combination of these symptoms, you can ask your doctor to request a "Creatine Panel" for both blood and urine (it's important to use both or CTD may be missed!). This will test for Creatine, Creatinine, and GAA. They may also sequence the SLC6A8 gene. This gene is part of several symptom-based panels (e.g., an autism gene panel, or an epilepsy gene panel). If your doctor orders a genetic test, ask what genes will be included and make sure SLC6A8 is included. To learn more about screening for CTD, visit this page.

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Partner Organizations

Association for Creatine Deficiencies
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The Association for Creatine Deficiencies (ACD) was established in 2012, by parents of children diagnosed with a Cerebral Creatine Deficiency Syndrome (CCDS) that decided a rare disease needs a unified community to affect change for the future. The ACD Board consists of unpaid CCDS parents.
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