Lesch-Nyhan syndrome is a genetic disease caused by one defective gene on the X chromosome, in connection with which a person literally eats himself, and no one knows for sure why this is happening.
As in the case of hemophilia, women with two X chromosomes are asymptomatic carriers of this ailment, so this disease is observed mainly in men.
The damaged gene, which encodes an enzyme with a very long name, hypoxanthine-guanine phosphoribosyltransferase (HGPT), is vital for the recycling system in living cells. In cells, the DNA molecule is "broken" into its component parts. The resulting parts, in turn, must also be divided into components. Two of these parts - adenine and guanine - are precisely divided thanks to the HGFT enzyme.
Due to the absence of this enzyme, there are so many compounds that they form uric acid. Uric acid begins to enter the bloodstream, as a result of which the urine becomes oversaturated with crystals. This phenomenon is also called "kidney stones". Kidney stones are the main symptom that helps doctors diagnose a patient with Lesch-Nychen syndrome.
But the most unpleasant and disgusting symptom of the disease is a specific type of self-harm. People with Lesch-Nyhan syndrome bite their lips, tongue, nails, fingers, and sometimes this behavior turns into more terrifying forms - eating the forearms (up to self-amputation) and letting go of blood. That is why this disease is also called "self-cannibalism" or "autosarcophagia".
Doctors still cannot understand what caused this behavior. The simplest explanation for this phenomenon is that uric acid irritates cells, and just like some people comb a mosquito bite until it bleeds, patients bite the most sensitive tissues, thereby causing themselves pain.
According to another theory, the effect of uric acid on brain development causes a lack of a special substance called dopamine. Some scientists consider Lesch-Nyhan syndrome to be the exact opposite of Parkinson's disease. For example, people with Parkinson's are limited in many activities they can think of. People with Lesch-Nyhan syndrome, on the other hand, cannot bring themselves to stop doing what they think about. If they think of biting themselves, they will certainly do so, even if they do not want to harm themselves.
Promotional video:
Proponents of another theory argue that such injuries contribute to the release of dopamine into the brain. One accidental injury to the face or hand causes a surge of pleasure that causes the sufferer to hurt himself more and more.
One of the ways designed to protect the patient from bites is to completely remove the teeth. However, those who took this extreme measure continue to mercilessly scratch different parts of the body with their hands. Probably, this disease is characterized by a behavioral disorder.
Since Lesch-Nyhan syndrome is a hereditary disease, it makes sense for women who have cases of the syndrome in the family to be examined by a doctor during pregnancy planning and find out if she will be a carrier of the defective gene. Unfortunately, at the moment there is no medicine that can completely cure a patient with Lesch-Nychen syndrome. Doctors can only restrain the development of the syndrome and alleviate the manifestation of symptoms.