Criteria for early identification of aceruloplasminemia.

Abstract

A 52-year-old Japanese woman being treated for type 1 diabetes showed forgetfulness and microcytic anemia with a high serum ferritin concentration. Serum and brain radiological examinations revealed aceruloplasminemia, which was confirmed by genetic testing. Aceruloplasminemia is characterized by the triad of retinal degeneration, diabetes mellitus, and adult-onset disorder of the extrapyramidal system. Though physicians should treat such patients earlier, it is difficult to diagnose the disease before the presentation of neurological symptoms. Despite the presence of microcytic anemia, aceruloplasminemia patients usually have a high serum ferritin concentration due to the complete absence of ceruloplasmin ferroxidase activity. Thus, physicians should consider aceruloplasminemia when diabetic patients present with microcytic anemia and a high serum ferritin concentration.

• Authors: Masaro Ogimoto, Keizo Anzai, Hiromasa Takenoshita, Kazuhiko Kogawa, Yuko Akehi, Ryoko Yoshida, Makiko Nakano, Kunihiro Yoshida, Junko Ono
• Journal: Internal medicine (Tokyo, Japan) (Intern Med) Vol. 50 Issue 13 Pg. 1415-8 ( 2011) ISSN: 1349-7235 [Electronic] Japan
• PMID: 21720062 (Publication Type: Case Reports, Journal Article)

Chemical References

• Ceruloplasmin
• Sialyltransferases
• polysialyltransferase-1, human

Topics

• Ceruloplasmin (deficiency, genetics)
• Diabetes Mellitus, Type 1 (complications, diagnosis, genetics)
• Early Diagnosis
• Female
• Humans
• Iron Metabolism Disorders (complications, diagnosis, genetics)
• Middle Aged
• Neurodegenerative Diseases (complications, diagnosis, genetics)
• Pedigree
• Sialyltransferases (genetics)