Menkes disease is a genetic disorder in which the body has a problem absorbing and distributing copper to bodily organs.
The disease affects development, both mental and physical. Menkes disease is caused by a defect in the ATP7A gene. The defect makes it hard for the body to properly distribute transport copper throughout the body. As a result, the brain and other parts of the body do not get enough copper, while it builds up in the small intestine and kidneys. A low copper level can affect the structure of bone, skin, hair, and blood vessels, and interfere with nerve function.
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Menkes syndrome is usually inherited, which means it runs in families. This kind of gene inheritance is called X-linked recessive. X-linked recessive Sex-linked diseases are passed down through families through one of the X or Y chromosomes. X and Y are sex chromosomes. Dominant inheritance occur In some people, the disease is not inherited from their parents. Instead, the gene defect occurs at the time the baby is conceived. A seizure is the physical changes in behavior that occurs during an episode of specific types of abnormal electrical activity in the brain.
The term The ceruloplasmin test measures the level of the copper-containing protein ceruloplasmin in the blood. Treatment usually only helps when started very early in the course of the disease. Injections of copper into a vein or under the skin have been used with mixed results and depend on whether the ATP7A gene still has some activity. Talk to your provider if you have a family history of Menkes syndrome and you plan to have children.
A baby with this condition will often show symptoms early in infancy. See a genetic counselor if you want to have children and you have a family history of Menkes syndrome.
