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Copper deficiency, or hypocupremia, is defined as insufficient copper to meet the body's needs, or as a serum copper level below the normal range. [1] Symptoms may include fatigue , decreased red blood cells , early greying of the hair, and neurological problems presenting as numbness , tingling, muscle weakness, and ataxia . [ 2 ]
Acquired copper deficiency has recently been implicated in adult-onset progressive myeloneuropathy [71] and in the development of severe blood disorders including myelodysplastic syndrome. [18] [72] [73] Fortunately, copper deficiency can be confirmed by very low serum metal and ceruloplasmin concentrations in the blood.
Familial benign copper deficiency, also known as Familial benign hypocupremia is a rare genetic disorder which is characterized by hypocupremia that causes symptoms such as epilepsy, hypotonia, seborrheic skin, thriving failure and mild anemia. [2] Radiological findings include tibia and femur spurring. [3]
Aceruloplasminemia is a rare autosomal recessive disorder [2] in which the liver can not synthesize the protein ceruloplasmin properly, which is needed to transport copper around the blood. Copper deficiency in the brain results in neurological problems that generally appear in adulthood and worsen over time. [3]
Medical treatments are available for Wilson's disease. Some increase the removal of copper from the body, while others prevent the absorption of copper from the diet. Generally, penicillamine is the first treatment used. This binds to copper (by chelation) and leads to excretion of copper in the urine. Hence, monitoring of the amount of copper ...
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