Living with Creatine transporter deficiency
An inherited condition that mainly affects the brain, causing intellectual disability and delayed speech, mostly in males.
Understanding Creatine transporter deficiency
People have intellectual disability from mild to severe and delayed speech. Some have behavior conditions such as ADHD or autistic behaviors, and some have seizures. Children may grow slowly, be late sitting and walking, and tire easily. A few people have heart rhythm problems, a small head, or distinctive facial features. It starts in infancy and childhood.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Intellectual disability
- Delayed speech and language
- Seizures
- Autistic behavior and hyperactivity
- Low muscle tone (hypotonia)
- Short stature
Not everyone has every symptom. GARD's list comes from the Human Phenotype Ontology.
Diagnosis
- 1Talk with your doctor
Share the symptoms you've noticed, when they started and your family health history. Notes and photos can help.
- 2See a specialist
Specialists who may be involved include brain and nervous system specialists, genetic specialists and seizure and epilepsy specialists.
- 3Consider genetic testing
Changes in SLC6A8 are linked to this condition. Genetic testing and counseling can help confirm a diagnosis and explain what it means for your family.
- 4Connect with expert centers
Epilepsy Foundation may keep lists of experts for this condition.
Care & treatment
- Care team
- Brain and nervous system specialists (neurologists); Genetic specialists (geneticists); Seizure and epilepsy specialists (epileptologist)
- Expert care
- Expert lists: Epilepsy Foundation
- Treatment
- GARD doesn't list specific treatments for this condition. Your care team will tailor care to your symptoms.
- Research
- Clinical trials and observational studies may be options. See the research section below.
General information, not medical advice. Your care team makes the decisions.
Everyday life
Living with a rare condition is easier with support.
- Connect with Association for Creatine Deficiencies and other patient organizations
- Keep notes on symptoms, changes and questions for appointments
- Ask about patient registries that help research
- Look into financial aid and travel resources for care visits
Quick facts
It is caused by changes in the SLC6A8 gene. It is X-linked, meaning the gene is on the X chromosome.
Also known as: ccds1; cerebral creatine deficiency syndrome 1; cerebral creatine deficiency syndrome 1, x-linked recessive; cerebral creatine deficiency syndrome type 1; creatine transporter defect; mental retardation , x-linked with seizures, short stature and midface hypoplasia
Patient organizations
- Association for Creatine DeficienciesCreatine transporter deficiency · United States
- Epilepsy FoundationEpilepsy · United States
You are more than your diagnosis
Perspectives from people navigating life with Creatine transporter deficiency.
Explore research for Creatine transporter deficiency
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