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Menkes Disease
Condition Overview: Menkes disease is a genetic disorder of copper metabolism that is detectable before birth (prenatally) and which follows a progressively degenerative path involving several organs of the body but especially the brain. It is characterized by seizures, mental retardation, stunted growth, failure to thrive, unstable body temperature, and very unusual color and texture of hair.It is the failure of the copper transport systems within the cell and then across the cell membrane that are responsible for the symptoms of the disorder. Because of the failure of this transport system, copper is unavailable to various cells where it is essential for the structure and function of various enzymes that control the development of hair, brain, bones, liver and arteries. Menkes disease is inherited as an X-linked recessive trait and is found disproportionately in male children. |
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