Menkes syndrome
Alternate Names : Steely hair disease, Menkes kinky hair syndrome, Kinky hair disease
Definition
Menkes syndrome is an inborn error of metabolism in which cells in the body cannot absorb enough copper.
Overview, Causes, & Risk Factors
Menkes syndrome is caused by a defect in the ATP7A gene. The defect makes it hard for the body to distribute and absorb copper. As a result, the brain and other parts of the body do not get enough copper. Low copper levels can affect the structure of bone, skin, hair, and blood vessels and interfere with nerve function. Copper also builds up in the small intestine and kidneys.
Menkes syndrome is inherited, which means it runs in families.
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