Is Menkes Syndrome a Copper Storage Disorder

Menkes disease, which is transmitted as an X-linked, recessive trait, has been disclosed as an inborn error of Cu metabolism. The clinical symptoms are thought to be caused by defective metabolic functions due to a general body deficiency of Cu. It was recently demonstrated that Menkes disease is not a simple deficiency syndrome. There is strong evidence that the fetus is affected and that the abnormal Cu distribution is a manifestation of this. Some data demonstrating that significant extra-hepatic storage of Cu is also present in affected males during postnatal life is reported. Cu was determined post mortem in various tisses from 2 boys with Menkes disease and from age-matched controls who died from unrelated diseases.