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. As a result, individuals with Menkes disease have low copper levels in their blood and tissues, leading to various health issues.
Symptoms of Menkes disease typically appear in infancy and may include developmental delays, seizures, and distinctive hair that is thin and twisted. Without treatment, the condition can lead to severe neurological problems and is often fatal in early childhood. Early diagnosis and intervention are crucial for improving outcomes.