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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.
Ceruloplasmin (or caeruloplasmin) is a ferroxidase enzyme that in humans is encoded by the CP gene. [ 5 ] [ 6 ] [ 7 ] Ceruloplasmin is the major copper -carrying protein in the blood, and in addition plays a role in iron metabolism .
Levels of ceruloplasmin are abnormally low (<0.2 g/L) in 80–95% of cases. [5] It can be present at normal levels, though, in people with ongoing inflammation, as it is an acute phase protein. Low ceruloplasmin is also found in Menkes disease and aceruloplasminemia, which are related to, but much rarer than Wilson's disease.
Multiple endocrine neoplasia type 2B (MEN 2B) is a genetic disease that causes multiple tumors on the mouth, eyes, and endocrine glands.It is the most severe type of multiple endocrine neoplasia, [2] differentiated by the presence of benign oral and submucosal tumors in addition to endocrine malignancies.
Cirrhosis, also known as liver cirrhosis or hepatic cirrhosis, chronic liver failure or chronic hepatic failure and end-stage liver disease, is an acute condition of the liver in which the normal functioning tissue, or parenchyma, is replaced with scar tissue and regenerative nodules as a result of chronic liver disease.
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]
Therefore, symptoms of Wilson's disease could be various including kidney disease and neurological disease. [12] The major cause is the malfunction of ATP7B [ 12 ] by single base pair mutations, deletions, frame-shifts, splice errors in ATP7B gene.
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 ...