What is a common treatment for Menkes Disease?

Copper supplementation is a common treatment for Menkes Disease, which is a genetic disorder caused by a mutation in the ATP7A gene that leads to copper deficiency. Since copper is vital for various physiological processes, including the function of enzymes involved in connective tissue formation and neurotransmitter synthesis, providing copper can help alleviate some of the symptoms associated with the disease.

In Menkes Disease, the impaired copper transport leads to decreased levels of copper in the body, particularly affecting the brain and other tissues. By administering copper supplementation, either through intravenous or oral routes, it is possible to partially restore copper levels and mitigate some developmental delays and complications.

The other treatment options listed are not standard or effective treatments for Menkes Disease. Iron infusions are typically used for iron deficiency anemia, which is unrelated to copper metabolism. Vitamin B12 shots are administered for conditions related to B12 deficiency, such as pernicious anemia, and would not address the copper deficiency present in Menkes Disease. Gene therapy is still largely experimental for many genetic disorders, including Menkes Disease, and is not a routine treatment option at this time.