Aceruloplasminemia

Aceruloplasminanemia is a neurodegenerative disease that occurs only at advanced age. Characteristic is an iron storage in the brain, which leads to neurological problems over time.

The disease has been previously described in 56 cases. Furthermore, the disease is characterized by anemia, diabetes mellitus, retinopathy and various neurological symptoms. It is associated with complete lack of ululoplasmin ferroxidase activity.

The cause is a mutation in the CP gene that gives instructions for the production of ceruloplasmin. The protein is involved in iron transport and processing. If ceruloplasmin is unavailable, this will affect the transport of iron from the tissues of the body. The resulting iron accumulation harms the cells and leads to neurological dysfunctions and other health problems.

The disease is inherited as an autosomal recessive trait. The prognosis is dependent on the development of cardiac insufficiency caused by cardiac iron overload and has led to death in five cases. If there is no cardiac insufficiency and diabetes is well treated, the patient's life expectancy is good.