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Lesch-Nyhan Syndrome Research Paper

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Inheritance
Lesch-Nyhan Syndrome is a rare sex linked disorder that can be passed down to male offsprings. That being said, Lesch-Nyhan Syndrome is an X-linked recessive disorder, as it regards to the X chromosome. The X chromosome is one of the two sex chromosomes that is used to code for the gender of an offspring. With that being said Lesch-Nyhan Syndrome deals with the sex chromosome. That means to inherit this disorder depends on the female carrier. Females have two X chromosomes and if one of the two chromosomes had a mutated copy of the responsible gene, this can result in a 25% chance of an affected male offspring. Female carriers do not inherit the disorder because they have another normal X chromosome, but female offsprings can …show more content…
Individuals with Lesch-Nyhan Syndrome are prone to a shorter life span. In addition to that, Lesch-Nyhan Syndrome affects an individual's neurological function, as most individuals with this syndrome cannot walk and require a wheelchair. Males with this syndrome also develop habits of self mutilation, this includes jerking movements and constant head banging. This puts a negative toll on an individual's life as it not only affects them mentally, but also physically affects their personal health.

Symptoms and …show more content…
With that being said common symptoms include orange urine, urate crystal, and neurological damage and behavioural changes. Many individuals with this syndrome develop issues with their kidney as well. There are many concerns regarding Lesch-Nyhan Syndrome for the reason that this disorder stems from the overproduction of uric acid in urine. Increase of uric acid can result in urine to appear in blood. This can lead to gout later on in development, which is the overproduction of uric acid in blood forming budges around the body. Uric acid accumulates into uric crystals in the joints due to the high amount of sodium in urine. Taking this into account, if not treated can lead into neurological changes due to the swelling in the joints resulting in weak muscles. The swelling affects an individual, as most people with this syndrome experience difficulty walking and require wheelchairs. Overtime individuals with this symptom can also experience behavioral changes such as jerking movements and impulsive screaming. On a whole, the reason why these symptoms occur is due to the absence of the gene that codes for enzyme hypoxanthine phosphoribosyltransferase 1, otherwise known as HPRT1. This gene is located on the long arm of the X chromosome, otherwise referred as Xq27. The deficiency of HPRT1 is a result of guanine not being built into the nucleotides, which is one out of the four nitrogenous bases

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