aceruloplasminemia

Aceruloplasminemia is an adult-onset condition where iron builds up in the brain. This buildup causes various problems, including anemia, retinal degeneration, diabetes, and neurological symptoms. The disease is part of a group known as neurodegeneration with brain iron accumulation (NBIA). People with this condition can experience a range of symptoms that affect both the brain and other parts of the body. It is also known by several other names, such as cerebellar ataxia and hereditary ceruloplasmin deficiency.

Common symptoms include anemia, retinal degeneration, diabetes, and various neurological signs. Some individuals may experience difficulties with movement, including signs related to cerebellar ataxia.

Aceruloplasminemia is caused by changes in the CP gene. These changes lead to a deficiency of ceruloplasmin, which affects how iron is managed in the brain and other organs.

Information about treatment options is currently limited for this condition.

Information about prognosis and quality of life considerations is currently limited for this condition.

Information about current research and future directions is currently limited for this condition.