Menke's Disease
Menke's Disease is a rare genetic disorder caused by a mutation in the ATP7A gene, which is responsible for copper transport in the body. This condition leads to copper deficiency, affecting various systems, particularly the nervous and skeletal systems. Symptoms often appear in infancy and may include developmental delays, seizures, and distinctive hair changes.
The disease is inherited in an X-linked manner, meaning it primarily affects males, while females can be carriers. Early diagnosis and treatment are crucial, as they can help manage symptoms and improve quality of life. However, the prognosis remains poor, with many affected individuals facing significant challenges.