Children'sHospitalFoundation

Vitamin Research Saving Lives

Even though they’ve never met him, kids at the Alberta Children’s Hospital fighting vitamin deficiency disease have one of our Institute members to thank for playing a life-saving and life-altering role in their care.

Dr. Roy Gravel, Professor, Departments of Biochemistry & Molecular Biology and Medical Genetics, studies how vitamins are processed in the human body. While most of us think a vitamin pill goes to work immediately after we swallow it, Gravel knows that the course vitamins take in breaking down and working through our systems is far more complex than that. In fact, there are a dozen steps or more that must take place in our bodies before we can benefit from vitamin B12’s effect.

Gravel has spent the last 30 years researching vitamins and has become an international expert on vitamins B12 and biotin. He and his research team are studying how genes and enzymes process vitamins. They are also examining why some people lack these vitamins. By better understanding the genetic causes of these deficiencies, Gravel and his colleagues have been able to find ways to treat them.

While vitamin deficiency diseases are rare, they are very serious - causing progressive brain damage and even death.

“If you catch them early enough, the wonderful aspect of the vitamin B12 or biotin disorders is that they can be treated with megadoses of the vitamin,” says Gravel. “A healthy life can be the outcome.”

Gravel’s lab and those of his collaborators have identified most of the genes known to be involved in the processing of vitamin B12 and biotin, or vitamin B7, in cells.

Gravel believes genetic diseases of metabolism have the best chance for treatment. Sometimes, high dose vitamins or special diets are effective, and in more complicated diseases, replacing missing enzymes or potentially missing genes can lead to treatment. Gravel says knowing his team’s research is helping children at our hospital and around the world makes it that much more rewarding.

“There is still so much more of these mysteries to solve. It really is fascinating.”

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