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.

[4] Aceruloplasminemia belongs to the group of genetic disorders called neurodegeneration with brain iron accumulation (NBIA).

[5] In addition to neurological problems, affected individuals may have diabetes mellitus caused by iron damage to cells in the pancreas that make insulin.

The CP gene mutation results in the production of ceruloplasmin protein that is unstable or nonfunctional by altering the open reading frame such that the amino acid ligands in the essential carboxyl terminal region are eliminated.

The resulting iron accumulation damages cells in those tissues, leading to neurological dysfunction and other health problems.

[5] To prevent the progression of symptoms of the disease, annual glucose tolerance tests beginning in early teen years to evaluate the onset of diabetes mellitus.

This, combined with fresh-frozen human plasma (FFP) works effectively in decreasing liver iron content.