Aceruloplasminemia

Aceruloplasminemia is a rare autosomal recessive disorder in which the liver cannot make the protein ceruloplasmin properly. Ceruloplasmin is needed to carry copper around the blood, and the resulting copper deficiency in the brain causes neurological problems that usually appear in adulthood and worsen over time. The condition has been seen worldwide, and its overall prevalence is unknown, although studies in Japan estimate that about one in two million adults is affected. Aceruloplasminemia belongs to the group of genetic disorders called neurodegeneration with brain iron accumulation, abbreviated NBIA. The description follows the Wikipedia lead and does not state treatments or the responsible gene beyond what the lead gives.