Molekulargenetische Diagnostik
Praxis Dr. Mato Nagel

Hyperferritinämie-Katarakt-Syndrom

Das Hyperferritinämie-Katarakt-Syndrom ist eine autosomal dominante Erkrankung. Sie wird durch Mutationen im Promotor des FTL-Gens hervorgerufen.

Gliederung

Störungen des Eisenstoffwechsels
Acoeruloplasminämie/Hypocoeruloplasminämie
Hyperferritinämie-Katarakt-Syndrom
FTL
Hämochromatose
L-Ferritin-Mangel
Neurodegeneration mit zerebraler Eisen-Akkumulation 3

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