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Hereditary Hyperferritinemia Caratact Syndrom due to a point mutation at position 32 in the IRE (iron responsive element) of the ferritin light chain- the first family in Germany

G Millonig, MP Holzer, HK Seitz, M Muckenthaler, S Mueller · Zeitschrift für Gastroenterologie · 2009 · Heft 01

Dokument
968566
CareLit-ID
Jahr
2009
Publikation
PDF
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Metadaten
DOI
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Bibliografische Angaben

Zeitschrift
Zeitschrift für Gastroenterologie
Autor:innen
G Millonig, MP Holzer, HK Seitz, M Muckenthaler, S Mueller
Ausgabe
Heft 01 / 2009
Seiten
–
Erschienen: 2009-01-20 00:00:00
ISSN
0044-2771
DOI
10.1055/s-0029-1191983

Zusammenfassung

Aims: High serum ferritin levels are usually suggestive for iron overload or systemic inflammation but could be also due to the hereditary hyperferritinemia cataract syndrome (HHCS), a rare condition with elevated ferritin light chain production and premature cataract. HHCS is caused by mutations within the iron responsive element (IRE) of the L-ferritin mRNA (FTL gene, MIM# 134790) which disrupts binding of the iron-regulatory proteins (IRP1 and 2) resulting in an uncontrolled L-ferritin translation. Ferritin deposition within the crystalline lens finally causes cataract. Thus far, cases of HHCS have been repor…

Schlagworte

cataract ferritin iron iron responsive element syndrome Zeitschrift für Gastroenterologie