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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 ]
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 ...
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.
Tea and toast syndrome is a form of malnutrition commonly experienced by elderly people who cannot prepare meals and tend to themselves. The term is not intrinsic to tea or bread products only; rather, it describes limited dietary patterns that lead to reduced calories resulting in a deficiency of vitamins and other nutrients.
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 ...
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.
Iron deficiency, or sideropenia, is the state in which a body lacks enough iron to supply its needs. Iron is present in all cells in the human body and has several vital functions, such as carrying oxygen to the tissues from the lungs as a key component of the hemoglobin protein, acting as a transport medium for electrons within the cells in the form of cytochromes, and facilitating oxygen ...