Aceruloplasminemia
Oxford Dictionary of Biochemistry:
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aceruloplasminemia
or (Brit.) acaeruloplasminaemia
a rare autosomalrecessive disorder in which plasma ceruloplasmin is severely deficient, characterized by neurological abnormalities and systemic hemosiderosis. Any of at least six mutations in a locus at 3q21-q24 can cause the disease.
a rare autosomalrecessive disorder in which plasma ceruloplasmin is severely deficient, characterized by neurological abnormalities and systemic hemosiderosis. Any of at least six mutations in a locus at 3q21-q24 can cause the disease.
| accuracy, accessory pigment, accessory food factor | |
| acesulfame, acetal, acetaminophen |
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Aceruloplasminemia
| Aceruloplasminemia | |
|---|---|
| Classification and external resources | |
| ICD-10 | E83.1 |
| ICD-9 | 275.0 |
| OMIM | 604290 |
| DiseasesDB | 30055 |
Aceruloplasminemia is an autosomal recessive[1] 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.[2]
Aceruloplasminemia belongs to the group of genetic disorders called neurodegeneration with brain iron accumulation (NBIA).
References
- ^ Harris, Zl; Takahashi, Y; Miyajima, H; Serizawa, M; Macgillivray, Rt; Gitlin, Jd (March 1995). "Aceruloplasminemia: molecular characterization of this disorder of iron metabolism". Proceedings of the National Academy of Sciences of the United States of America 92 (7): 2539–43. doi:10.1073/pnas.92.7.2539. ISSN 0027-8424. PMC 42253. PMID 7708681. //www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=42253.
- ^ Yoshida, K; Furihata, K; Takeda, S; Nakamura, A; Yamamoto, K; Morita, H; Hiyamuta, S; Ikeda, S; Shimizu, N; Yanagisawa, N (March 1995). "A mutation in the ceruloplasmin gene is associated with systemic hemosiderosis in humans". Nature Genetics 9 (3): 267–72. doi:10.1038/ng0395-267. PMID 7539672.
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Oxford Dictionary of Biochemistry
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