A compound in a common over-the-counter supplement has given an eight-year-old the ability to walk again, in what has been called a 'dream come true'.
The eight-year-old, who was not named, used to be the fastest runner in his class and an avid soccer player, regularly enjoying games with friends.
But in August 2023, he started to struggle to walk — and within three months was limping, suffering frequent falls and needing a wheelchair.
His parents rushed him to doctors, where physicians at NYU Langone diagnosed him with a
genetic condition called HPDL deficiency.
The disease is rare — with only 90 recorded cases since it was discovered in 2022 — and inhibits the body's ability to make enough of an enzyme called coenzyme Q10 (CoQ10), a compound that plays a vital role in giving cells energy.
Taking CoQ10 supplements, available over-the-counter for around 20 cents per pill, can help, but they aren't enough to fuel cells in the brain because the enzyme is too large to cross the blood-brain barrier.
Without enough of the enzyme in the brain, sufferers struggle to walk or control their muscles and are at risk of suffering from seizures.
So, rather than simply give the little boy a supplement, his doctors said: 'We figured, why not give the cell the building blocks so that the cell can make it itself?'
The 'building block' of CoQ10 is called 4-HB and is thin enough to cross the blood-brain barrier. Doctors were able to put this in a powder, which the boy took dissolved in a solution of water.
nypost.com
