Creatine Transporter Deficiency is a rare genetic disorder that affects the transport of creatine, a substance important for energy production in muscles and the brain. This condition is caused by mutations in the SLC22A4 gene, which is responsible for creating the protein that helps move creatine into cells. As a result, individuals with this deficiency may experience muscle weakness, developmental delays, and cognitive challenges. Symptoms of Creatine Transporter Deficiency can vary widely among affected individuals. Some may have seizures or behavioral issues, while others might show signs of intellectual disability. Early diagnosis and treatment are crucial for managing symptoms and improving quality of life, often involving creatine supplementation to help compensate for the transport issue.