Copper Transport Disease

Below you will find more information about Copper Transport Disease from Medigest. If you believe that you are suffering from any of the symptoms of Copper Transport Disease it is important that you obtain an accurate diagnosis from a medical professional to ensure that you obtain the correct medication or treatment for your condition. There are medical conditions that carry similar symptoms associated with Copper Transport Disease and therefore the information provided by Medigest is offered as a guideline only and should never be used in preference to seeking professional medical advice. The information relating to Copper Transport Disease comes from a third party source and Medigest will not be held liable for any inaccuracies relating to the information shown.


Copper transport disease is a hereditary disorder involving copper metabolism, passed on as X-linked trait. Copper builds up at unusually low levels in the brain and liver, but higher level than normal in the intestinal lining and kidney.


The disease can be diagnosed through several approaches including laboratory tests, imaging tests, history, and others tests like EEG, lymphoblasts, and cultured fibroblasts.


Treatment options for Copper transport disease include oral copper supplements, intravenous copper, supportive and symptomatic treatments. Early treatment using oral or intravenous copper supplements may provide some benefits. If given as treatment within an infant's first few months, copper histidinate shows efficiency in increasing life expectancy in some.

Symptoms and Signs

Infants that are affected may be prematurely born, but seem well at birth and grow normally for six to eight weeks. After which, symptoms start to manifest in the form of seizures, failure to thrive, floppy tone of muscle, bony deformities, twisted hair or pili torti, hypothermia, hypotonia, and extremely damaged intellectual development.


The disease is a result of a defective gene that's responsible for regulating copper metabolism in the body. This gene is said to be Xq13.3, wherein the mutations result in decreased copper production.

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