Aceruloplasminemia is inherited as an autosomal recessive circumstance. Men and women with the disease get a couple of mutant ceruloplasmin genes, one from each of their parents.
Aceruloplasminemia is an autosomal recessive disorder. It is characterized by liberal neurodegeneration of the retina and basal ganglia associated with particular inherited mutations in the ceruloplasmin gene. Recognition of aceruloplasminemia provides original insights into the hereditary and environmental determinants of copper metabolism and has significant implications for our agreement of the character of copper in human neurodegenerative diseases. This disease reveals the crucial character of a copper-containing protein in iron trafficking.
The presence of neurologic symptoms in aceruloplasminemia is unusual among the known inherited and acquired disorders of iron metabolism. Affected patients evidence marked parenchymal iron accretion in conjunction with an absence of circulating serum ceruloplasmin and molecular genetic analysis reveals inherited mutations in the ceruloplasmin gene. The presence of neurologic symptoms in patients with aceruloplasminemia is unique among the characterized disorders of iron metabolism, and recent findings indicate that astrocyte specific ceruloplasmin gene expression is critical for iron metabolism and neuronal survival in the retina and basal ganglia.
In aceruloplasminemia, the balance between the compartmentalization and storage of iron and the mobilization and transport of iron is disrupted. Adult onset symptoms also involve generalized muscle weakness and wasting of respiratory muscles in the trunk, lower limbs, and diaphragm. Many patients report respiratory distress, headache at night or upon waking, diminished deep tendon reflexes, and proximal muscle weakness, such as difficulty in climbing stairs. Intellect is not affected. A small number of adult patients live without major symptoms or limitations. Cardiac and respiratory complications are treated symptomatically. Physical and occupational therapy may be beneficial for some patients. Alterations in diet may provide temporary improvement but will not alter the course of the disease.
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