View source for Menkes disease (patient information)

'''For the WikiDoc page for this topic, click [[Menkes disease|here]]'''

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{{CMG}}; '''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?==
*[[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?==
[[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:
*Abnormal appearance of the [[hair]] under the [[microscope]]
*Abnormally low [[body temperature]]
*[[Bleeding]] in the [[brain]]
*Slow [[growth]] in the [[womb]]

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]] 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?==
[http://maps.google.com/maps?f=q&amp;hl=en&amp;geocode=&amp;q={{urlencode:{{#if:{{{1|}}}|{{{1}}}|Menkes disease}}}}&amp;sll=37.0625,-95.677068&amp;sspn=65.008093,112.148438&amp;ie=UTF8&amp;ll=37.0625,-95.677068&amp;spn=91.690419,149.414063&amp;z=2&amp;source=embed    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==
*[[Seizures]]
*[[Death]]

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

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