Friday 11/July/2025 – 02:59 PM
In an inspiring story that represents a glimmer of hope in the world of genetic medicine, a 8 -year -old child managed to restore his ability to walk, after undergoing experimental treatment based on a boat found in one of the available nutritional supplements, and published the story details in the Nature Scientific Journal.
Eighth child regains the ability to walk thanks to an experimental treatment extracted from a dietary supplement
The doctors pointed out that the condition of the child whose identity was not disclosed had suddenly deteriorated during the summer of 2023, after he was an active athlete and fastest hostility in his class, he began to show symptoms of difficulty movement, soon developed to the point of full dependence on a wheelchair.
A rare genetic disease
The doctors explained that the child suffers from a lack of HPDL enzyme, which is a rare genetic disorder that hinders the body’s production of sufficient quantities of COQ10 assistant enzyme, which is an essential compound for cell functions.
Although COQ10 supplements are used to support cases associated with this deficiency, their effectiveness is limited, given that their molecules are large in size and are not able to cross the blood blood barrier, which makes them unable to reach the brain to treat neurological symptoms.
An alternative compound capable of penetrating the brain
Hence, the researchers resorted to the use of an alternative compound known as 4-HB, which is one of the main components of the manufacture of CoQ10 inside the body. This compound is characterized by its small size, which allows it to penetrate the blood blood barrier when consumed as a liquid solution.
Although this compound is not approved by the US Food and Drug Administration as an official treatment, the medical team has obtained approval to use it as an experimental drug for one case, after the approval of the child’s parents.
Although the treatment was initially caused by repeated vomiting of the child, due to the size of the large solution 600 ml per day, the dose was later reduced to 300 ml, which made it more likely.
In less than one month of starting 4-HB, the child was able to walk again, and even completed a trip with a length of miles via Central Park in New York
The medical team hopes that this success will pave the way for an expanded clinical study that includes a larger group of children with the same disease, which may represent a turning point in the treatment of rare genetic disorders associated with neuronal cell functions.
