health guides

Menkes’ disease is a rare hereditary disorder caused by an abnormality of copper utilization.¹

Until recently, Menkes’ disease was considered universally fatal.² However, it now appears that the severity of the disease varies from person to person.^{3, 4} Medical doctors often use genetic analysis⁵ to diagnose this disorder, even before birth.^{6, 7} In cases where the genetic defect appears responsive to copper therapy, early treatment is needed to minimise the severity of the physical defects that will develop later.⁸ Treatment can even begin before birth; while still pregnant, mothers of babies identified with Menkes’ disease can receive injections of copper histidine under the skin. Healthcare professionals, including geneticists (specialists in hereditary diseases), should be consulted in the treatment of Menkes’ disease.