alexa Abstract | Recurrent Bleeding Symptoms in an Infant with Heterozygous Mutation of Gamma Glutamyl Carboxylase Gene

Journal of Rare Disorders: Diagnosis & Therapy
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Case Report Open Access


Background: Congenital combined deficiency of the vitamin K-dependent coagulation factors (VKCFD) is a rare bleeding disorder. The mutations of γ-glutamyl carboxylase (GGCX), named VKCFD1, and the vitamin K epoxide reductase (VKOR) complex, named VKCFD2, have been reported.

Methods: The levels of prothrombin induced by vitamin K absence II (PIVKA II), in a female infant patient and her parents, were measured by enzyme immunoassay (Diagnostica Stago). The genetics of the VKORC and GGCX genes of all exons were identified using polymerase chain reaction technique (PCR) and submitted for sequencing.

Findings: A female infant was presented with recurrent bleeding. Her coagulogram revealed prolonged APTT and PT. The elevated PIVKAII suggested a defect in the vitamin K pathway. Genetic studies demonstrated a heterozygous mutation in the GGCX gene in exon 7, c.7973 C>G in the patient. The treatment included the administration of vitamin K and increased high-vitamin K food.

Conclusions: The heterozygous mutation of GGCX gene can cause recurrent bleeding symptoms and requires treatment with vitamin K until patient receives adequate amounts, namely more than the maintenance level, of vitamin K from food intake.

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Author(s): Punnavit Khongphithakskul Werasak Sasanakul Rutchanee Kwanchaipanich Ampaiwan Chuansumrit Praguywan Kadegasem Pakawan Wongwerawattanakoon and Nongnuch Sirachainan


Bleeding disorder, GGCX gene, Infant, Rare blood disorders, Orphan Diseases

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