Menkes' Syndrome

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Category Description:

Menkes disease is caused by a defect in the gene that regulates metabolism of copper in the body. Copper accumulates at abnormally low levels in the liver and brain, but at higher than normal levels in the kidney and intestinal lining.

Sites listed here offer information about the disease, as well as support for patients and their families and caregivers.

  • Copper and Menkes' Disease  - Provides an explanation of the different causes of this disease and functions of copper in the human system.
  • eMedicine: Menkes' Disease  - Details include discovery of this disease, pathophysiology, symptoms, causes, diagnostic tests, and treatment.
  • Menkes Syndrome  - Explains causes, symptoms, genetic connection, inheritance, and links to additional information.
  • NINDS Menkes Disease Information Page  - Describes this condition, including causes, treatment, prognosis, and research.
 
 
 
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