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Article

GGCX mutations show different responses to vitamin K thereby determining the severity of the hemorrhagic phenotype in VKCFD1 patients.

Journal of thrombosis and haemostasis : JTH - 1 Jun 2021

Ghosh Suvoshree, Kraus Katrin, Biswas Arijit, Müller Jens, Buhl Anna-Lena, Forin Francesco, Singer Heike, Höning Klara, Hornung Veit, Watzka Matthias, Czogalla-Nitsche Katrin J, Oldenburg Johannes

Abstract excerpt

BACKGROUND: Vitamin K dependent coagulation factor deficiency type 1 (VKCFD1) is a rare hereditary bleeding disorder caused by mutations in γ-glutamyl carboxylase (GGCX). VKCFD1 patients are treated life-long with high doses of vitamin K in order to correct the bleeding phenotype. However, normalization of clotting factor activities cannot be achieved for all VKCFD1 patients. OBJECTIVE: The current study aims to...

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PMID: 33590680
DOI: 10.1111/jth.15238

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