Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

Aceruloplasminemia/Hypoceruloplasminemia

Aceruloplasminemia and Hypoceruloplasminemia are hereditary disorders including copper and iron metabolism. The disorders are caused by mutations of the CP (ceruloplasmin) gene, which result in copper storage in different tissues characterized clinically by systemic hemosiderosis, diabetes mellitus, pigment degeneration of the retina, and neurologic abnormalities. Depending on the nature of the mutation and the allele dosage dominant and recessive as well as hypo- and acaeruloplasminemia may be discriminated. Heterozygous mutations usually result in hypoaceruloplasminemia while aceruloplasminemia is a recessive disorder.

Systematic

Hereditary disorders protein metabolism
Aceruloplasminemia/Hypoceruloplasminemia
CP
Congenital analbuminemia
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