Menkes disease (patient information): Difference between revisions

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==Possible complications==
==Possible complications==
*[[Seizures]]
*[[Death]]


==Sources==
==Sources==

Revision as of 17:00, 26 March 2010

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What is Menkes disease?

Menkes syndrome is an inborn error of metabolism in which cells in the body cannot absorb enough copper.

What are the symptoms of Menkes disease?

What causes Menkes disease?

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.

Who is at risk for Menkes disease?

How do I know I have Menkes disease?

There is often a history of Menkes syndrome in a male relative.

Signs include:

In males, all of the hairs will be abnormal. In females who carry this trait, only half of the hairs may be abnormal.

Tests include:

Genetic testing may show a change (mutation) in the ATP7A gene.

When to seek urgent medical care

Talk to your health care 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.

Treatment options

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.

Where to find medical care for Menkes disease

Directions to Hospitals Treating Menkes disease

What to expect (Outlook/Prognosis)

Most persons with this condition die within the first few years of life.

Possible complications

Sources

http://www.nlm.nih.gov/medlineplus/ency/article/001160.htm

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