HealthMap

Menkes Disease and Copper Metabolism

• Yes, Menkes syndrome is a fatal genetic disorder related to copper metabolism.
• It is caused by mutations in the ATP7A gene, which leads to abnormal copper distribution in the body.
• Although copper accumulates in certain tissues like the small intestine and kidneys, other vital organs such as the brain experience severe copper deficiency.
• Because copper is essential for the function of numerous critical metabolic enzymes, the resulting deficiency severely impairs growth, neurological development, and connective tissue integrity.
• The condition typically presents in infancy and, without effective early intervention, is usually fatal in early childhood.