Vitamin K-dependent coagulation factors deficiency

Benjamin Brenner; Amir A. Kuperman; Matthias Watzka; Johannes Oldenburg

doi:10.1055/s-0029-1225766

Vitamin K-dependent coagulation factors deficiency

Benjamin Brenner, Amir A. Kuperman, Matthias Watzka, Johannes Oldenburg

Research output: Contribution to journal › Review article › peer-review

62 Scopus citations

Abstract

All vitamin K-dependent coagulation factors require normal function of γ-glutamyl carboxylase and vitamin K epoxide reductase enzyme complex (VKORC1). Heritable dysfunction of g-glutamyl carboxylase or of the VKORC1 complex results in the secretion of poorly carboxylated vitamin K-dependent proteins that play a role in coagulation. The following review will summarize the clinical manifestations of vitamin K-dependent coagulation factors deficiency I and II and will provide a detailed explanation about the gene and protein structure, the function of the protein, and an analysis of the previously reported mutations. Laboratory assays used for diagnosis will be discussed, and treatment for various clinical settings will be recommended.

Original language	English
Pages (from-to)	439-446
Number of pages	8
Journal	Seminars in Thrombosis and Hemostasis
Volume	35
Issue number	4
DOIs	https://doi.org/10.1055/s-0029-1225766
State	Published - Jun 2009
Externally published	Yes

Bibliographical note

Funding Information:
The authors are indebted to all the patients and their families for their participation. They thank Dr. Agustín Ruiz for his helpful remarks, Carolyn Newey for editorial help, and Laia Muñoz and Inés M. Matas for technical assistance. This work was supported by a research grant from “ Center for Networker Biomedical Research in Neurodegenerative Diseases ” and by the “ Fondo de Investigaciones Sanitarias ” ( PI09/00098 ).

Funding

The authors are indebted to all the patients and their families for their participation. They thank Dr. Agustín Ruiz for his helpful remarks, Carolyn Newey for editorial help, and Laia Muñoz and Inés M. Matas for technical assistance. This work was supported by a research grant from “ Center for Networker Biomedical Research in Neurodegenerative Diseases ” and by the “ Fondo de Investigaciones Sanitarias ” ( PI09/00098 ).

Funders	Funder number
Center for Networker Biomedical Research in Neurodegenerative Diseases
Fondo de Investigaciones Sanitarias	PI09/00098

Keywords

Vitamin K epoxide reductase (VKOR)
Vitamin K-dependent coagulation factors deficiency (VKCFD)
γ-glutamyl carboxylase (GGCX)

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10.1055/s-0029-1225766

Cite this

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title = "Vitamin K-dependent coagulation factors deficiency",

abstract = "All vitamin K-dependent coagulation factors require normal function of γ-glutamyl carboxylase and vitamin K epoxide reductase enzyme complex (VKORC1). Heritable dysfunction of g-glutamyl carboxylase or of the VKORC1 complex results in the secretion of poorly carboxylated vitamin K-dependent proteins that play a role in coagulation. The following review will summarize the clinical manifestations of vitamin K-dependent coagulation factors deficiency I and II and will provide a detailed explanation about the gene and protein structure, the function of the protein, and an analysis of the previously reported mutations. Laboratory assays used for diagnosis will be discussed, and treatment for various clinical settings will be recommended.",

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note = "Funding Information: The authors are indebted to all the patients and their families for their participation. They thank Dr. Agust{\'i}n Ruiz for his helpful remarks, Carolyn Newey for editorial help, and Laia Mu{\~n}oz and In{\'e}s M. Matas for technical assistance. This work was supported by a research grant from “ Center for Networker Biomedical Research in Neurodegenerative Diseases ” and by the “ Fondo de Investigaciones Sanitarias ” ( PI09/00098 ).",

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Vitamin K-dependent coagulation factors deficiency

Abstract

Bibliographical note

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Keywords

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