Aceruloplasminemia
Aceruloplasminemia is a rare autosomal recessive disorder in which the liver can not synthesize the protein ceruloplasmin properly, which is needed to transport copper around the blood. Copper deficiency in the brain results in neurological problems that generally appear in adulthood and worsen over time. .
| Aceruloplasminemia | |
|---|---|
| Other names | Ceruloplasmin deficiency |
| MRI hypointensity (white arrows) in the globus pallidi that indicates the presence of iron deficiencies which would be seen in a diagnosis of Aceruloplasminemia | |
| Specialty | Medical genetics |
Aceruloplasminemia has been seen worldwide, but its overall prevalence is unknown. Studies in Japan have estimated that approximately 1 in 2 million adults in this population are affected.
Aceruloplasminemia belongs to the group of genetic disorders called neurodegeneration with brain iron accumulation (NBIA).
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