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Menkes disease (MNK), also known as Menkes syndrome, [1] [2] is an X-linked recessive disorder caused by mutations in genes coding for the copper-transport protein ATP7A, [3] leading to copper deficiency. [4] [5] Characteristic findings include kinky hair, growth failure, and nervous system deterioration. Like all X-linked recessive conditions ...
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.
Testing for copper deficiency should ... is a fixed-dosed combination medication for the treatment of adults with ... is associated with a life expectancy of 3–10 ...
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 ...
Causes include excessive alcohol use (the most common cause of sideroblastic anemia), pyridoxine deficiency (vitamin B 6 is the cofactor in the first step of heme synthesis [8]), lead poisoning [9] and copper deficiency. [10] Excess zinc [11] can indirectly
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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]