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Copper Transport Disease

Copper Transport Disease Causes

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.

Copper Transport Disease Definition

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.

Copper Transport Disease Diagnosis

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

Copper Transport Disease 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.

Copper Transport Disease Treatment

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.

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