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  2. Copper deficiency - Wikipedia

    en.wikipedia.org/wiki/Copper_deficiency

    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 ]

  3. Familial benign copper deficiency - Wikipedia

    en.wikipedia.org/wiki/Familial_benign_copper...

    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]

  4. Copper in biology - Wikipedia

    en.wikipedia.org/wiki/Copper_in_biology

    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.

  5. Ceruloplasmin - Wikipedia

    en.wikipedia.org/wiki/Ceruloplasmin

    Zinc toxicity, due to induced copper deficiency; Copper does not cross the intestinal barrier due to ATP7A deficiency (Menkes disease and Occipital horn syndrome) Delivery of copper into the lumen of the ER-Golgi network is absent in hepatocytes due to absent ATP7B (Wilson's disease) Copper availability doesn't affect the translation of the ...

  6. GLUT1 deficiency - Wikipedia

    en.wikipedia.org/wiki/GLUT1_deficiency

    GLUT1 deficiency syndrome, also known as GLUT1-DS, De Vivo disease or Glucose transporter type 1 deficiency syndrome, is an autosomal dominant genetic metabolic disorder associated with a deficiency of GLUT1, the protein that transports glucose across the blood brain barrier. [1]

  7. Occipital horn syndrome - Wikipedia

    en.wikipedia.org/wiki/Occipital_horn_syndrome

    Occipital horn syndrome (OHS), formerly considered a variant of Ehlers–Danlos syndrome, [1] is an X-linked recessive mitochondrial and connective tissue disorder. It is caused by a deficiency in the transport of the essential mineral copper , associated with mutations in the ATP7A gene.