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Glycogenspeicherkrankheit 1

Die Glycogenspeicherkrankheit 1 (von Gierke) ist eine autosomal rezessive Erkrankung, die durch Mutationen im Gen SLC37A4 oder G6PC ausgelöst wird. Die Manifestation ist sowohl in der Niere als auch in der Leber. In der Niere sehen wir eine Vergrößerung des Organs, eine Glomerulosklerose und ein renotubuläres Fanconi-Syndrom.

Gliederung

Metabolische Störungen der proximalen Tubulusfunktion
Cystinose
Fanconi-Bickel-Syndrom
Fanconi-Syndrom
Fruktoseintoleranz
Galactosämie
Glycogenspeicherkrankheit 1
Glycogenspeicherkrankheit 1A
G6PC
Glycogenspeicherkrankheit 1B
SLC37A4
Glycogenspeicherkrankheit 1C
SLC37A4
Hepatorenale Tyrosinämie
Lowe-Syndrom
MELAS-Syndrom
Morbus Dent
Morbus Wilson

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OMIM.ORG article

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Update: 14. August 2020
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