Menkes disease (patient information): Difference between revisions
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==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?== |
Revision as of 16:48, 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?
- 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?
How do I know I have Menkes disease?
When to seek urgent medical care
Treatment options
Where to find medical care for Menkes disease
Directions to Hospitals Treating Menkes disease