Also known as SLC6A8 deficiency, Creatine transporter defect, X-linked creatine deficiency syndrome
What is it?
Creatine transporter deficiency is a genetic disorder resulting when the body can’t transport sufficient 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 Common Symptoms?1
- 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
X-linked creatine deficiency. MedlinePlus website. https://medlineplus.gov/genetics/condition/x-linked-creatine-deficiency/. Published May 28, 2019. Accessed June 6, 2019.
Intended for U.S. audiences only
Participate in Research
To talk to someone and get more information about Ultragenyx clinical trials and research, email [email protected].
Observational Research
Summary of Vigilan observational study of males with creatine transporter deficiency (CTD)
Research plays a critical part in advancing science and treatments. Volunteers who participate in this research are essential. Future therapies would not be possible without them. Participating in clinical trials, interviews, observational studies, and disease monitoring programs help to drive research, treatment development, and disease education. It is also a way to advocate for yourself and your community.
Upcoming Community Events
Participate in Events Near YouCTD Patient Advocacy Groups*
*These organizations are an incomplete listing of rare disease advocacy groups and are not controlled by, endorsed by, or affiliated with Ultragenyx Pharmaceutical Inc. The list is meant for informational purposes only and is not intended to replace your healthcare professional’s medical advice. Ask your doctor or nurse any questions you may have about your disease or treatment plan. If you would like to have your group added to the list, please contact [email protected].
Rare Experiences
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Regina
Creatine Transporter Deficiency (CTD)“It takes a village to raise a kid, and in my experience with rare disease, it’s actually taken several villages.”
Franco
Creatine Transporter Deficiency (CTD)“We don’t know where this new path is going to take us, but we will be with him every step of the way.”
