Menkes Disease is a rare genetic disorder that affects copper metabolism in the body. It is estimated to occur in approximately 1 in 50,000 to 100,000 live births. This prevalence may vary across different populations and regions. Menkes Disease primarily affects males, as it is an X-linked recessive disorder, meaning the defective gene is located on the X chromosome.
The disease is characterized by a deficiency in copper absorption and transport, leading to copper accumulation in certain tissues and organs. This results in a wide range of symptoms, including developmental delays, weak muscle tone, seizures, and distinctive physical features such as sparse and kinky hair.
Early diagnosis and treatment are crucial for managing Menkes Disease. However, due to its rarity and the variability of symptoms, it can be challenging to identify the condition in its early stages. Genetic testing is typically required to confirm the diagnosis.
While Menkes Disease is a devastating condition, ongoing research and advancements in medical care offer hope for improved outcomes and potential future treatments.