Cerebral Creatine Deficiency
Cerebral Creatine Deficiency is a rare genetic disorder that affects the brain's ability to produce and use creatine, a substance important for energy metabolism. This deficiency can lead to various neurological issues, including developmental delays, intellectual disabilities, and seizures. It is caused by mutations in genes responsible for creatine synthesis or transport.
Diagnosis typically involves genetic testing and measuring creatine levels in the brain using magnetic resonance spectroscopy. Treatment options may include creatine supplementation, which can help improve symptoms and enhance cognitive function. Early intervention is crucial for better outcomes in affected individuals.