Menkes+syndrome

[|Menkes syndrome] Josh 1.Located on the X chromosome 2.Allelic mutations 3.Person affected have whiteish hair, hair also looks kinked when viewed under microscope. People with Menkes syndrome cannot transport copper, which is very important for enzymes that create bone, nerve, and other structures. 4.Infants are mostly affected because Menkes syndrome is usually aquired as a baby. 5."Menkes syndrome is an inborn error of metabolism that markedly decreases the cells' ability to absorb copper. The disorder causes severe cerebral degeneration and arterial changes, resulting in death in infancy." The doctor could just look at the copper level in the baby or if they noticed severe cerebral degeneration or arterial changes they could assume that the child has Menkes syndrome. 6.Copper histidinate can be helpful in treating Menkes if given during the first few months of life. However, this only increases the life expectancy of the affected child from three to thirteen years. 7.Menkes syndrome is 100% fatal.  Sources: []