title: Aceruloplasminemia: a rare disease - diagnosis and treatment of two cases.
abstract: Aceruloplasminemia is a rare autosomal recessive disease in which a mutation leads to the absence or dysfunction of ceruloplasmin. Deficiency of this enzyme leads to the accumulation of iron in various organs; aceruloplasminemia is usually characterized by diabetes, retinal degeneration and neurological disorders. Diagnosis is suspected by the presence of elevated levels of ferritin, anemia, decreased serum copper and absence of ceruloplasmin in serum. Treatment of aceruloplasminemia is mainly based on the control of iron overload.
authors.affiliation: Department of Internal Medicine, Universidade Federal de Goiás - UFG, Goiânia, GO, Brazil.
authors.forename: Maria do Rosário Ferraz
authors.initials: Mdo R
authors.lastname: Roberti
authors.forename: Handel Meireles
authors.initials: HM
authors.lastname: Borges Filho
authors.forename: Cláudio Humberto
authors.initials: CH
authors.lastname: Gonçalves
authors.forename: Flávio Leão
authors.initials: FL
authors.lastname: Lima