Acoeruloplasminämie und Hypocoeruloplasminämie sind Erkrankungen des Kupfer- und Eisenstoffwechsels, die durch Mutationen des CP-Gens hervorgerufen werden. Klinische Befunde sind systemische Hämosiderose, Diabetes mellitus, Pigmentdegeneration der Retina und neurologische Störungen (Ataxie). Je nach Mutation und allele dosage ist die Erkrankung dominant oder rezessiv vererbt. Heterozygote Anlageträger zeigen meist eine Hypocoeruloplasminämie. Acoeruloplasminämie ist meist rezessiv vererbt.
Hereditäre Störungen des Proteinmetabolismus | ||||
Acoeruloplasminämie/Hypocoeruloplasminämie | ||||
CP | ||||
Kongenitale Analbuminämie | ||||
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