What causes Menkes disease?

Mutations in the ATP7A gene, which provides instructions for making a protein that is important for regulating copper levels in the body, cause Menkes disease.

The body needs copper for many activities, including making myelin, the critical insulation for brain and nerve cells. Without enough copper, brain cells and other tissues cannot make myelin and the nerve signals they transmit might not travel where they are needed. The body also uses proteins that contain copper to make bones, skin, hair, blood vessels, and other parts of the nervous system. A copper imbalance can cause problems in the structure and function of these important body parts. Many of the signs and symptoms of Menkes disease are caused by the reduced activity of the copper-containing proteins.1

Other parts of the body don't need a lot of copper, so if it builds up in high amounts, it can be toxic or harmful.

Some mutations in the ATP7A gene get in the way of the body's copper transport and storage, but do not stop it completely. This may be linked to a milder form of Menkes, sometimes called occipital horn syndrome (OHS) or Cutis Laxa (pronounced KYOO-tis LAK-suh) disease. The symptoms of OHS—calcium deposits in a bone at the base of the skull, coarse hair, and loose skin and joints—appear later in childhood and are not usually fatal.

  1. National Library of Medicine, Genetics Home Reference. (2009). Menkes syndrome. Retrieved May 22, 2012, from https://ghr.nlm.nih.gov/condition/menkes-syndrome

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