Menkes disease. A clinical case of a rare disorder of copper metabolism caused by a mutation in the ATP7A gene

The article presents the features of diagnostics and dynamic monitoring of a patient with Menkes disease, a rare disorder of copper metabolism caused by a mutation in the ATP7A gene. The data of scientific literature on the epidemiology, etiology, pathogenesis of this disease are analyzed, and the basic principles of therapy and the outcomes of the disease are considered.