Menkes disease and Wilson's disease: Update and challenges

摘要

Menkes disease is characterized by neurological disturbances and connective tissue disorders due to copper deficiency. The current preferred treatment involves copper-histidine injections, but it is not so effective. Combination therapy with copper and diethyldithiocarbonate may be effective. Wilson's disease (WD) arises from the toxic effects of copper. As diagnosis is difficult due to the variety of symptoms, infant screening for WD can lead to timely diagnosis and treatment. Despite receiving treatment, patients with WD may be at risk for hepatocellular carcinoma.