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Lesch Nyhan Syndrome

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Lesch Nyhan Syndrome (LNS) is a rare condition that affects young children, almost exclusively males. Kidney stones, inadequate muscle control, and the urge to self-harm are all common symptoms of LNS (2). Extensive research is being conducted in order to gain knowledge on the exact causes and preventions of such a peculiar disease. LNS is a recessive disease that is carried by mothers and passed down to their sons. It is highly unlikely that a female would have LNS because two copies of the mutated gene would need to be present. One of these copies would be inherited from her father, which is not likely because males with LNS do not have children due to the effects of the gene. However, some females carry the disease, but they are silent…show more content…
Painful and uncomfortable symptoms occur when there is not enough of this enzyme because the purines are broken down, but the recycling process of purines does not take place. This leads to build up uric acid, which is a chemical created from the breakdown of purines. Too much uric acid leads to severe gout and the formation of urate crystals in the joints, kidneys, and central nervous system (2). Allopurinol is a drug that is used to limit amounts of uric acid in the body. Kidney stones often result from excessive amounts of uric acid and can be treated with lithotripsy, a technique that uses shock waves or lasers to break up the stones. Neurological symptoms also occur, including facial grimacing, writhing, and spasms. Poor muscle control is associated with NHS, as well as self-injurious behaviors like finger and lip biting, slamming the head against hard objects, and scratching the face repeatedly. These symptoms are treated with different types of medicines, and often those affected by LHS are physically restrained at the elbows, chest, and hips to prevent self-injury. Teeth are even removed in extreme cases of LNS (1). Although these treatments alleviate the symptoms, there is no way to completely stop the symptoms from occurring, and unfortunately, this disease affects one in every 380,000 people
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