Aceruleoplasminemy
The aceruleoplasminemy is a disease which is characterized by the accumulation of Fer in the Cerveau and in the other internal organs. The manifestations of the disease include/understand the diabetes, a retinal degeneration and neurological demonstrations appearing between 25 and more than 60 years. The neurological signs are especially involuntary movements and a Ataxie. The first sign of this disease is the appearance of an anemia preceding the neurological demonstrations. Psychiatric disorders are frequent after 50 years.
Biology shows a disappearance of the blood céruléoplasmine, blood concentration of iron, blood concentration of copper, an increase in the blood concentration of Ferritine and hepatic concentration of the Fer. I.R.M watch zones of accumulation of iron in the brain.
Sources
- Acéruléoplasminémie, physiopathology, symptoms, treatment and the catch of load in the medical encyclopedia Vulgaris * Online Mendelian Inheritance in Man, OMIM (TM). Johns Hopkins University, Baltimore, MANDELEVIUM. MIM Number: 604290 * Hiroaki Miyajima, Aceruloplasminemia in GeneTests: Medical Genetics Information Resource (database online). Copyright, University off Washington, Seattle. 1993-2006
Acéruléoplasmine
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