Menkes syndrome
Menkes syndrome 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. This leads to copper deficiency, resulting in various health issues, including developmental delays, seizures, and distinctive physical features such as sparse, curly hair.
The condition primarily affects males and is usually diagnosed in infancy. Without treatment, individuals with Menkes syndrome may experience severe neurological problems and a shortened lifespan. Early intervention, including copper therapy, can help manage symptoms and improve quality of life.