chapter  3
28 Pages

Copper Metabolism in Menkes’ Disease

ByNina Horn

Menkes’ disease is a genetically determined disturbance of the copper metabolism. The syndrome was first described in 1962 by Menkes and colleagues in five boys from one kindred and all related through fermales only. The transmittance of the disease, thus, showed the characteristic pattern of X-linked inheritance. They delineated the major clinical features of the syndrome including progressive psychomotoric retardation with seizures and death in early childhood.