Breakthrough research at UM: Vitamin K saves the life of Brazilian baby
Researchers at Maastricht University's R&D Group VitaK and the University of North Carolina at Chapel Hill (USA) discovered two new mutations in the enzyme GGCX, which activates coagulation factors in the blood. This new discovery was used to develop a therapy, which saved the life a Brazilian baby girl. To investigate the underlying cause of the illness, a new and advanced cell culture method was developed. This study was published online in the prestigious scientific journal Blood.
The girl was six months old when she suffered from a severe brain bleed. After the bleed, the doctors discovered that she had inactive blood clotting proteins. The girl was kept alive by administering clotting factors intravenously every other day. A genetic analysis of her blood revealed that she was a carrier of three different mutations (one known and two new mutations) in the GGCX enzyme, which is responsible for activating clotting factors.
At the recommendation of Dr Vermeer (VitaK), the girl was treated with an extremely high dose of vitamin K, a therapy that had proven successful in a similar case with a patient from Lebanon. The Brazilian girl showed significant improvement. She no longer required additional clotting factors and her coagulation began to gradually stabilise.
Colleagues in Chapel Hill then developed a cell and tissue culture method (in vitro model) to research the mutations in the cell culture. This allowed the researchers to test the most effective form vitamin K and the minimal dose required to achieve the maximum effect.
The Brazilian girl is now four-and-a-half years old and transformed from a seriously ill baby into a healthy and functioning toddler.
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