Cerebral creatine deficiency syndrome is a rare genetic disorder that affects the brain's ability to produce and use creatine, a substance important for energy metabolism. This condition is caused by mutations in genes responsible for creatine synthesis, leading to low levels of creatine in the brain. Symptoms can include developmental delays, intellectual disability, and seizures. Diagnosis typically involves measuring creatine levels in the brain using magnetic resonance spectroscopy (MRS) or through genetic testing. Treatment may include creatine supplementation to help improve symptoms and support brain function. Early diagnosis and intervention are crucial for better outcomes in affected individuals.