Menkes Disease
Menkes Disease is a rare genetic disorder that affects copper levels in the body. It is caused by mutations in the ATP7A gene, which is responsible for transporting copper into cells. This leads to a deficiency of copper in the body, resulting in various health issues, including developmental delays, neurological problems, and distinctive physical features.
Symptoms of Menkes Disease typically appear in infancy and may include brittle hair, seizures, and growth failure. Early diagnosis and treatment are crucial, as the condition can lead to severe complications. Treatment often involves copper supplementation and supportive care to manage symptoms.