Aceruloplasminemia

Infobox_Disease
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DiseasesDB = 30055
ICD10 = ICD10|E|83|1|e|70
ICD9 = ICD9|275.0
ICDO =
OMIM = 604290
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eMedicineTopic =
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Aceruloplasminemia is an autosomal recessive [cite journal |pmid=7708681 |year=1995 |month=Mar |author=Harris, Zl; Takahashi, Y; Miyajima, H; Serizawa, M; Macgillivray, Rt; Gitlin, Jd |title=Aceruloplasminemia: molecular characterization of this disorder of iron metabolism |volume=92 |issue=7 |pages=2539–43 |issn=0027-8424 |pmc=42253 |journal=Proceedings of the National Academy of Sciences of the United States of America] disorder of iron metabolism characterized by progressive neurodegeneration of the retina and basal ganglia and diabetes mellitus.

Iron accumulates in the pancreas, liver and brain. Accumulation in the eye may lead to retinal degeneration. The disease is caused by mutations in the ceruloplasmin gene. [cite journal |pmid=7539672 |year=1995 |month=Mar |author=Yoshida, K; Furihata, K; Takeda, S; Nakamura, A; Yamamoto, K; Morita, H; Hiyamuta, S; Ikeda, S; Shimizu, N; Yanagisawa, N |title=A mutation in the ceruloplasmin gene is associated with systemic hemosiderosis in humans |volume=9 |issue=3 |pages=267–72 |doi=10.1038/ng0395-267 |journal=Nature genetics]

References

ee also

* Human iron metabolism
* Iron overload disorder