Creatine transporter deficiency is a rare genetic disorder that affects the body's ability to transport creatine, a substance important for energy production in muscles and the brain. This condition is caused by mutations in the SLC6A8 gene, which encodes the creatine transporter protein. As a result, individuals with this deficiency may experience low levels of creatine in their cells, leading to various health issues. Symptoms of creatine transporter deficiency can include developmental delays, intellectual disability, and seizures. Diagnosis typically involves genetic testing and measuring creatine levels in the body. Treatment options may focus on managing symptoms and may include creatine supplementation to help improve energy levels and overall function.