Molekulargenetische Diagnostik
Praxis Dr. Mato Nagel

Störungen des Eisenstoffwechsels

Genetische Störungen des Eisenstoffwechsels betreffen die Aufnahme, Speicherung oder Ausscheidung des Eisens und resultieren in Mangel oder Überschuss.

Pathogenese

Gliederung

Erbliche Stoffwechselerkrankungen
Acoeruloplasminämie/Hypocoeruloplasminämie
Coenzym Q10-Mangel
Erbliche Fettstoffwechselerkrankungen
Genetisch bedingte Hyperbilirubinämie
Glycolipidose
HADH-Mangel
Hypomagnesiämie
Kongenitale Glykosilierungsstörung
Lebensmittelunverträglichkeiten
Lysosomale Speicherkrankheiten
MELAS-Syndrom
Methioninadenosyltransferase-Mangel
Störungen des Cobalaminstoffwechsels
Störungen des Eisenstoffwechsels
Acoeruloplasminämie/Hypocoeruloplasminämie
CP
Hyperferritinämie-Katarakt-Syndrom
FTL
Hämochromatose
Hämochromatose 1
BMP2
HFE
Hämochromatose 2a
HFE2
Hämochromatose 2b
HAMP
Hämochromatose 3
TFR2
Hämochromatose 4
SLC40A1
Hämochromatose 5
FTH1
L-Ferritin-Mangel
FTL
Neurodegeneration mit zerebraler Eisen-Akkumulation 3
FTL
Störungen des Glucosestoffwechsels
Störungen des Harnstoffzyklus
Störungen des Harnsäurestoffwechsels
Störungen des Phosphathaushaltes

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