Menkes disease (patient information): Difference between revisions

Jump to navigation Jump to search
No edit summary
m (Robot: Changing Category:Disease state to Category:Disease)
Line 68: Line 68:


{{SIB}}
{{SIB}}
{{WH}}
{{WS}}


[[Category:Mature chapter]]
[[Category:Mature chapter]]
[[Category:Disease state]]
[[Category:Disease]]
[[Category:Syndromes]]
[[Category:Syndromes]]
[[Category:Patient information]]
[[Category:Patient information]]
[[Category:Genetic disorders]]
[[Category:Genetic disorders]]
[[Category:Genetic disorders patient information]]
[[Category:Genetic disorders patient information]]
{{WH}}
{{WS}}

Revision as of 21:52, 9 December 2011

For the WikiDoc page for this topic, click here

WikiDoc Resources for Menkes disease (patient information)

Articles

Most recent articles on Menkes disease (patient information)

Most cited articles on Menkes disease (patient information)

Review articles on Menkes disease (patient information)

Articles on Menkes disease (patient information) in N Eng J Med, Lancet, BMJ

Media

Powerpoint slides on Menkes disease (patient information)

Images of Menkes disease (patient information)

Photos of Menkes disease (patient information)

Podcasts & MP3s on Menkes disease (patient information)

Videos on Menkes disease (patient information)

Evidence Based Medicine

Cochrane Collaboration on Menkes disease (patient information)

Bandolier on Menkes disease (patient information)

TRIP on Menkes disease (patient information)

Clinical Trials

Ongoing Trials on Menkes disease (patient information) at Clinical Trials.gov

Trial results on Menkes disease (patient information)

Clinical Trials on Menkes disease (patient information) at Google

Guidelines / Policies / Govt

US National Guidelines Clearinghouse on Menkes disease (patient information)

NICE Guidance on Menkes disease (patient information)

NHS PRODIGY Guidance

FDA on Menkes disease (patient information)

CDC on Menkes disease (patient information)

Books

Books on Menkes disease (patient information)

News

Menkes disease (patient information) in the news

Be alerted to news on Menkes disease (patient information)

News trends on Menkes disease (patient information)

Commentary

Blogs on Menkes disease (patient information)

Definitions

Definitions of Menkes disease (patient information)

Patient Resources / Community

Patient resources on Menkes disease (patient information)

Discussion groups on Menkes disease (patient information)

Patient Handouts on Menkes disease (patient information)

Directions to Hospitals Treating Menkes disease (patient information)

Risk calculators and risk factors for Menkes disease (patient information)

Healthcare Provider Resources

Symptoms of Menkes disease (patient information)

Causes & Risk Factors for Menkes disease (patient information)

Diagnostic studies for Menkes disease (patient information)

Treatment of Menkes disease (patient information)

Continuing Medical Education (CME)

CME Programs on Menkes disease (patient information)

International

Menkes disease (patient information) en Espanol

Menkes disease (patient information) en Francais

Business

Menkes disease (patient information) in the Marketplace

Patents on Menkes disease (patient information)

Experimental / Informatics

List of terms related to Menkes disease (patient information)

Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Assistant Editor-in-Chief: Alexandra M. Palmer

Overview

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?

Menkes disease is a genetic disorder, so anyone with a family history of the disease is at risk.

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.

Diagnosis

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.

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

Template:SIB Template:WH Template:WS