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

Journal of Rare Disorders: Diagnosis & Therapy
Open Access

OMICS International organises 3000+ Global Conferenceseries Events every year across USA, Europe & Asia with support from 1000 more scientific Societies and Publishes 700+ Open Access Journals which contains over 50000 eminent personalities, reputed scientists as editorial board members.

Open Access Journals gaining more Readers and Citations

700 Journals and 15,000,000 Readers Each Journal is getting 25,000+ Readers

This Readership is 10 times more when compared to other Subscription Journals (Source: Google Analytics)

Case Report Open Access

Abstract

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.

To read the full article Peer-reviewed Article PDF image | Peer-reviewed Full Article image

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

Keywords

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

 
Peer Reviewed Journals
 
Make the best use of Scientific Research and information from our 700 + peer reviewed, Open Access Journals
International Conferences 2017-18
 
Meet Inspiring Speakers and Experts at our 3000+ Global Annual Meetings

Contact Us