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Rare Disorders: Causes Of The Lesh Nyhan Disease

1241 words - 5 pages

Lesch-Nyhan Syndrome (or disease), I believe the term is used interchangeably, is a rare disorder that is carried by mother and passed to son, and occurs because of a deficiency of the enzyme called hypoxanthinine-guanine phosphoribosyltransferase (HPRT) [3]. It usually occurs in males and also has a high risk factor for gout because of the metabolic defect associated with the overproduction of uric acid [1, 2]. Uric acid is a waste product which is found in the blood and urine. Any excess uric acid can be released in the blood and can also build up under the skin, which in turn, can cause gouty arthritis or kidney and bladder stones [2]. Lesch-Nyhan syndrome can also cause neurological abnormalities such as; motor handicap which is can be similar to dystonic cerebral palsy, intellectual disability and recurrent self-injurious behaviors [2]. Most individuals with Lesch-Nyhan syndrome more often than not are unable to walk, they also need help sitting, and typically use a wheelchair [1]. The pathogenic pathway of the excess uric acid and the complications that can occur are understood, and treatments are available to help reduce the risk of having gout and nephrolithiasis [2]. However, the mechanisms of neurological and behavioral abnormalities are not entirely understood, and most likely do not have relevance to the excess production of uric acid or even beginning from birth, would not have any sway of the neurological side [2].
Lesch-Nyhan disease is caused by a deficiency in the HPRT gene, where it is located on the X chromosome, one out of the two sex chromosomes where males have only one X chromosome so if an X chromosome copy is altered that is enough to cause the disease [1]. Where as in females, there would have to be a mutation to occur in both the of the X chromosomes in order to cause the disorder, so it is not as common in females compared to males to have the disorder, and X-linked inheritance is where the father does not pass it down to their son, but it is passed down from mother to son [1]. A study was done on individual family members that had were deficient in HPRT, shown that it is passed in the course of a heterozygous female carrier. Also in the study, the females that were heterozygous for the mutation which causes Lesch-Nyhan syndrome had normal HPRT activity while females who only had partial deficiency of HPRT ranged from 20% normal to normal. Mutations in LND are heterogeneous, that have a variety of defects that is spread across the entire HPRT gene [3]. These mutations have an effect on the coding of HPRT, which is important in the recycling process of purines [3].
HPR is a purine salvage enzyme in which when catalyzed converts HPRT to mononucleotides [4]. HPRT deficiency is a factor in the overproduction of uric acid and knowing de novo purine synthesis, purine salvage, and purine degradation will have a better understanding of the mechanisms of HPRT which are involved in the overproduction of uric acid [3, 4]....

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