Familial apoceruloplasmin deficiency associated with blepharospasm and retinal degeneration.
A 52-year-old woman had a newly recognized disorder of familial hypoceruloplasminemia, blepharospasm, retinal degeneration, and high-density areas in CT of the basal ganglia and liver scan. Immunofixation electrophoresis disclosed apoceruloplasmin deficiency. Kinetic, x-ray analysis, and histochemical study showed accumulation of iron in liver and brain, but not of copper. Intestinal copper absorption was reduced, but liver uptake was increased. Ceruloplasmin is involved in iron metabolism, and the findings suggest that hypoceruloplasminemia due to lack of apoceruloplasmin was causally linked to the iron deposition in basal ganglia and other organs, leading to blepharospasm and retinal degeneration.
D001059:Apoproteins / Q000172:deficiency*; D001764:Blepharospasm / Q000150:complications* / Q000473:pathology; D001921:Brain / Q000378:metabolism; D002570:Ceruloplasmin / Q000172:deficiency* / Q000378:metabolism; D003300:Copper / Q000378:metabolism; D005141:Eyelid Diseases / Q000150:complications*; D005260:Female; D006801:Humans; D007501:Iron / Q000378:metabolism; D008661:Metabolism, Inborn Errors / Q000150:complications* / Q000235:genetics / Q000473:pathology; D008875:Middle Aged; D012162:Retinal Degeneration / Q000150:complications* / Q000473:pathology
D001059:Apoproteins; C006612:apoceruloplasmin; D003300:Copper; D007501:Iron; D002570:Ceruloplasmin