Aceruloplasminemia

Aceruloplasminemia is an autosomal recessive disorder of iron metabolism characterized by progressive neurodegeneration of the retina and basal ganglia and diabetes mellitus.

Iron accumulates in the pancreas, liver and brain. Accumulation in the eye may lead to retinal degeneration. The disease is caused by mutations in the ceruloplasmin gene.

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