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{{CMG}}; '''Assistant Editor-in-Chief:''' Alexandra M. Palmer


'''Editor-in-Chief:''' Alexandra M. Palmer
==Overview==
 
{{EJ}}
 
==What is Menkes disease?==
[[Menkes syndrome]] is an [[inborn error of metabolism]] in which [[cells]] in the [[body]] cannot absorb enough [[copper]].
[[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 are the symptoms of Menkes disease?==
*[[Bone spurs]]
*Brittle, kinky [[hair]]
*Feeding difficulties
*[[Irritability]]
*Lack of [[muscle tone]], floppiness ([[hypotonia]])
*Low [[body temperature]]
*[[Mental]] deterioration
*Pudgy, rosy [[cheeks]]
*[[Seizures]]
*[[Skeletal]] changes


==What causes 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?==
==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.


==How do I know I have Menkes disease?==
Signs include:
*Abnormal appearance of the [[hair]] under the [[microscope]]
*Abnormally low [[body temperature]]
*[[Bleeding]] in the [[brain]]
*Slow [[growth]] in the [[womb]]


==When to seek urgent medical care==
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:
*[[Serum]] [[ceruloplasmin]]
*[[Serum]] [[copper]] level
*[[Skin cell]] ([[fibroblast]]) culture
*[[X-ray]] of the [[skeleton]] or [[x-ray]] of the [[skull]]
 
[[Genetic testing]] may show a change ([[mutation]]) in the [[ATP7A]] [[gene]].


==Treatment options==
==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==
==Where to find medical care for Menkes disease?==
[http://maps.google.com/maps?f=q&hl=en&geocode=&q={{urlencode:{{#if:{{{1|}}}|{{{1}}}|Menkes disease}}}}&sll=37.0625,-95.677068&sspn=65.008093,112.148438&ie=UTF8&ll=37.0625,-95.677068&spn=91.690419,149.414063&z=2&source=embed    Directions to Hospitals Treating Menkes disease]
[http://maps.google.com/maps?f=q&hl=en&geocode=&q={{urlencode:{{#if:{{{1|}}}|{{{1}}}|Menkes disease}}}}&sll=37.0625,-95.677068&sspn=65.008093,112.148438&ie=UTF8&ll=37.0625,-95.677068&spn=91.690419,149.414063&z=2&source=embed    Directions to Hospitals Treating Menkes disease]


==What to expect (Outlook/Prognosis)==
==What to expect (Outlook/Prognosis)?==
Most persons with this [[condition]] die within the first few years of life.


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


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


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[[Category:Patient Information]]
 
[[Category:Mature chapter]]
[[Category:Disease]]
[[Category:Syndromes]]
[[Category:Patient information]]
[[Category:Genetic disorders]]
[[Category:Genetic disorders patient information]]

Latest revision as of 17:19, 9 August 2012

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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


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