Menkes Syndrome

Menkes syndrome is a rare genetic disorder that affects the nervous system and can cause death if not treated promptly. It is named after the American pediatrician John Menkes, who first described the disease in 1950.

Menkes syndrome manifests itself in early childhood and can be detected already in the first months of life. Children with this condition have developmental delays, poor motor coordination, speech and hearing problems, and learning difficulties. In addition, they may have eye problems such as squint or nearsightedness.

One of the main causes of Menkes syndrome is a mutation in the ATP7A gene, which is responsible for transporting copper in the body. With this disease, copper metabolism is disrupted, which leads to its deficiency in the nervous system.

Treatment for Menkes syndrome includes taking copper supplements and other vitamins that help improve the body's metabolism. Medicines may also be used to help control symptoms of the disease.

Despite the fact that Menkes syndrome is a rare disease, it requires constant monitoring and treatment. If not treated promptly, serious complications such as blindness, paralysis and even death can occur. Therefore, it is very important to detect Menkes syndrome as early as possible and begin treatment as soon as possible.