Criteria for early identification of aceruloplasminemia

Internal Medicine

Volumn 50, Issue 13, 2011, Pages 1415-1418

  Ogimoto, Masaro ^a   Anzai, Keizo ^a   Takenoshita, Hiromasa ^a   Kogawa, Kazuhiko ^a   Akehi, Yuko ^a   Yoshida, Ryoko ^a   Nakano, Makiko ^a   Yoshida, Kunihiro ^b   Ono, Junko ^a  

^a FUKUOKA UNIVERSITY SCHOOL OF MEDICINE   (Japan)

^b SHINSHU UNIVERSITY SCHOOL OF MEDICINE   (Japan)

Author keywords

Diabetes mellitus; Ferritin; Microcytic anemia

Indexed keywords

CERULOPLASMIN; FERRITIN;

ACERULOPLASMINEMIA; ADULT; ARTICLE; BLOOD EXAMINATION; CASE REPORT; COMPUTER ASSISTED TOMOGRAPHY; EARLY DIAGNOSIS; FEMALE; FERRITIN BLOOD LEVEL; GENETIC ANALYSIS; HUMAN; HYPOGLYCEMIA; INSULIN DEPENDENT DIABETES MELLITUS; IRON METABOLISM DISORDER; JAPANESE; MICROCYTIC ANEMIA; NUCLEAR MAGNETIC RESONANCE IMAGING; POINT MUTATION; RESTRICTION FRAGMENT LENGTH POLYMORPHISM;

CERULOPLASMIN; DIABETES MELLITUS, TYPE 1; EARLY DIAGNOSIS; FEMALE; HUMANS; IRON METABOLISM DISORDERS; MIDDLE AGED; NEURODEGENERATIVE DISEASES; PEDIGREE; SIALYLTRANSFERASES;

EID: 79960065060     PISSN: 09182918     EISSN: 13497235     Source Type: Journal    
DOI: 10.2169/internalmedicine.50.5108     Document Type: Article

References (12)

1. Yoshida K, Furihata K, Takeda S, et al. A mutation in the ceru-loplasmin gene is associated with systemic hemosiderosis in humans. Nat Genet 9: 267-272, 1995.
2. Harris ZL, Takahashi Y, Miyajima H, Serizawa M, MacGillivray RTA, Gitlin JD. Aceruloplasminemia: molecular characterization of this disorder of iron metabolism. Proc Natl Acad Sci USA 92: 2539-2543, 1995.
3. Okamoto N, Wada S, Oga T, et al. Hereditary ceruloplasmin deficiency with hemosiderosis. Hum Genet 97: 755-758, 1996.
4. Takahashi Y, Miyajima H, Shirabe S, Nagataki S, Suenaga A, Gitlin JD. Characterization of a nonsense mutation in the ceru-loplasmin gene resulting in diabetes and neurodegenerative disease. Hum Mol Genet 5: 81-84, 1996.
5. Miyajima H, Takahashi Y, Shimizu H, Sakai N, Kamata T, Kaneko E. Late onset diabetes mellitus in patients with hereditary aceruloplasminemia. Intern Med 35: 641-645, 1996.
6. Hatanaka Y, Okano T, Oda K, Yamamoto K, Yoshida K. Aceru-loplasminemia with juvenile-onset diabetes mellitus caused by exon skipping in the ceruloplasmin gene. Intern Med 42: 599-604, 2003.
7. Muroi R, Yagyu H, Kobayashi H, et al. Early onset insulin-dependent diabetes mellitus as an initial manifestation of aceru-loplasminaemia. Diabet Med 23: 1136-1139, 2006.
8. Miyajima H, Takahashi Y, Kamata T, Shimizu H, Sakai N, Gitlin JD. Use of desferrioxamine in the treatment of aceruloplasmine-mia. Ann Neurol 41: 404-407, 1997.
9. Loreal O, Turlin B, Pigeon C, et al. Aceruloplasminemia: new clinical, pathophysiological and therapeutic insights. J Hepatol 36: 851-856, 2002.
10. Gonzalez-Cuyar LF, Perry G, Miyajima H, et al. Redox active iron accumulation in aceruloplasminemia. Neuropathology 28: 466-471, 2008.
11. Duvigneau JC, Piskernik C, Haindl S, et al. A novel endotoxin-induced pathway: upregulation of heme oxygenase 1, accumulation of free iron, and free iron-mediated mitochondrial dysfunction. Lab Invest 88: 70-77, 2008.
12. Sohn YS, Breuer W, Munnich A, Cabantchik ZI. Redistribution of accumulated cell iron: a modality of chelation with therapeutic implications. Blood 111: 1690-1699, 2008.