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All this stuff about no evidence that oxidative stress plays no role in hyperuricemic syntromes is flatly nonsense. I suggest a pubmed search is in order. There are so many papers that I am going to have to figure out which ones to include. E.g., superoxide dismutase was found to ameliorate hyperuricemic syndrome in Dalmatian dogs over three decades ago. It is also a favorite mechanism for pathogenesis in atherosclerosis, stroke, and metabolic syndrome. I could go on and on. Nucleophilic ( talk) 15:58, 4 March 2010 (UTC)
Just a small point. Kelley Seegmiller does not equal Lesch Nyhan. Lesch Nyhan is caused by a complete enzymatic deficiency whilst in Kelley seegmiller there is only a partial defect. —Preceding unsigned comment added by 93.96.165.72 ( talk) 19:39, 10 October 2008 (UTC)
Larsie (& Taxman), you have done a great job in creating this detailed article.
I disagree with the comment "Haldane's rule predicts a 2/3 chance that she is a carrier and a 1/3 chance that the son has a new germline mutation". I don't believe that Haldane makes any reference to the incidence of new mutations. Also, is it really necessary to include such a detailed description of X-linked genetics? Why not just include a link.
Axl 23:27, 8 Nov 2004 (UTC)
Correction to the above: apparently there are three Haldane's rules, one of which does make the prediction quoted. While the rule does make the prediction, in this case the prediction is wrong because the mutation rate in males exceeds the rate in females. Axl 14:11, 11 Nov 2004 (UTC)
I must compliment the previous authors on the large amount of work. The restructuring and copyediting I'm doing today has a lot to do with the overlap that has crept into the article. I've also changed a lot of terms that are POVish (malady, affliction). In all, I have not changed any facts, apart from the following:
i don't think all that copy editing did much except for make a mess of the article, the headings now don't exactly pertain to the paragraphs below them and the signs and symptoms is to long, it needs to be broken up. it also seems as though a lot of information was lost -- Larsie 22:20, 10 Nov 2004 (UTC)
I have now included references to the original description of LNS, as well as its linkage to HPRT mutations. I also made a stub for HPRT. Sadly, no recent general review articles have been published. The closest I could get is one by Dr Nyhan himself in 1997 ( PMIDÂ 9211189). If I can get access to the article fulltext I'll present relevant material here for discussion.
I will also look into the basic biochemistry. HPRT does not produce uric acid. Rather, it shunts DNA breakdown products back into new DNA synthesis. Defects of the gene lead to increased siphoning of the purine breakdown material into their "natural" metabolic sink, which happens to be uric acid. The important question is whether the shortage of "recycled" purines is important in the context of LNS. Old memories from medical school tell me that it is. JFWÂ |Â T@lk 17:54, 11 Nov 2004 (UTC)
I believe it is correct to say that LNS only affects males. Females carriers, even those with gouty symptoms, do not have the disease. Osmodiar 08:12, 24 Nov 2004 (UTC)
It's correct to say that the disease is extremely rare in females; it's NOT correct to say it only effects males. See Yukawa, T.; Akazawa, H.; Miyake, Y.; Takahashi, Y.; Nagao, H.; Takeda, E. : A female patient with Lesch-Nyhan syndrome. Dev. Med. Child Neurol. 34: 543-546, 1992. PubMed ID : 1612215 - Nunh-huh 08:21, 24 Nov 2004 (UTC)
OK, but I think it should be stressed that it is overwhelmingly a disease of males, to the point that a female case warrants a write up in a journal. I changed the wording in the introduction back to allow for the possibility of female patients. Perhaps a more detailed discusion of non random X inactivation, new mutations, and other possibilities (Turner syndrome?) could go under the "female" section. Osmodiar 09:09, 24 Nov 2004 (UTC)
Would it be possible to get a picture of one of the custom wheelchairs used by LNS patients -- ie, with saddles, restraints, etc to minimize self-injury? Catherine\ talk 08:17, 24 Dec 2004 (UTC)
From Talk:Lesch-Nyhan Syndrome:
I've decided just to redirect without merge, as it's an obvious copy and paste (probably from someone's paper). sjorford →•↠11:11, 24 Feb 2005 (UTC)
Thank you Paul. It's been a while I last copyedited the article, but I was generally under the impression that it was well sourced and structured. All I did was add some molecular biology and classical references. When I've got some time (I'm on night shift) I'll have a quick scan. JFWÂ |Â T@lk 23:00, 8 Mar 2005 (UTC)
It seems to me that part of wikipedia's goal is to allow anyone access to the information they need. To that end, it seems that the first paragraph is a little incomprehensible to those without a chemistry background. Is it possible to make the first paragraph a little more user-friendly, and maybe go into that kind of detail in a second paragraph? Verloren Hoop 21:28, 11 July 2006 (UTC)
This article's sourcing is miserable. It does not meet FA requirements. JFWÂ |Â T@lk 21:45, 31 March 2007 (UTC)
Removed the following inserted text: [3]
I've taken this out because it adds to the already-existing problem of an uncited article, and has other issues as well. Why was the reference to coprolalia removed? What is the source for this text? Please see WP:RS and WP:MEDMOS). The text contains self-references to this Wiki article, so needs copyediting. There are also self-references to Matheny, which should be removed and sourced. The language is informal, not encyclopedic. (At Matheny, we have come to recognize ... ) The article is not on Matheny's website, so the text is out of place here. "These aggressive behaviors cause others to become angry" is editorializing. Perhaps some of the content here can be sourced, copyedited, and re-added. SandyGeorgia ( Talk) 15:30, 12 April 2007 (UTC)
The idea that other examples of pathogenesis due to urate-induced oxidative stress are not related to Lesch-Nyhans is clearly original research and contrary to the cites in the article. It is unsupported by any literature I know of. If there is, please cite it.
So, I'm going to involke my sole priviledge here as a "expert" to cite the literature and revert the revert. (Damn, I just hate getting into edit fights about stuff I am actually do work on.) Recently, it has become clear that oxidative stress induced by urate is a general mechanism of pathogenesis. Thus, other examples are quite relevant to the Lesch-Syndrome. The literature cited in the article clearly reflects this. The big puzzle with respect to this disease is the odd symptomology. This is ultimately related to it. Also, there has been criticism that the cites on this article are not current. This is an attempt to correct this. Pproctor 14:16, 27 May 2007 (UTC)
Er, experts can cite their own work at arms length, as long as the cites meet the rules. Mine do. Also, you are entirely incorrect about the further cites not supporting the role for oxidative stress in hyperuricemic syndromes. It is a very big deal right now in pathogenesis in general, though it originated with the Lesch-Nyhan syndrome over three decades ago. How else do you explain (e.g.) the efficacy of SOD in hyperuricemic syndrome in Dalmatian dogs?. Also, the concept antedates the term "oxidative stress". So the older papers are not indexed under this on pubmed.
BTW, while we are playing competing experts here-- I'm and MD, PHD with a path residency. I published my first paper on uric acid and the possible physiological role of its redox properties in the journal Nature in 1970 [4]. Check it out. And yes, Ames' rediscovery [5] ten years later is generally cited. The Matthew effect at work, but a good screen for whether someone knows the uric acid literature or not. In research, there is a penalty for being too early.
Uric acid is now firmly established as the putative most important extracellular antioxidant in humans. It is the proxidant properties that likely cause the problems, in LNS, metabolic syndrome and so forth. Not my suggestion about the latter, BTW. likewise, how can anyone possibly claim papers in Nature, Stroke, PNAS, The CRC handbook of Free Radicals and Biomedicine, JBC, and so forth are "original research" or "speculation"?
As for its relevance to LNS-- In fact, I got into the uric acid "biz" after encountering a patient with LNS. This sugested that uric acid might actually be something more than the end product of purine metabolism. This was one of the first identifed cases after the first description of this syndrome. Has anyone else posting here actually seen a case of LNS or published any papers on it? Pproctor 14:06, 28 May 2007 (UTC)
Your expertise is unfortunately irrelevant here, as is mine, since Wikipedia cannot verify our identities. The part of the policy I think this section might have problems with is the section on synthesis of material. This problem would be avoided if you can find papers that address oxidative stress in LNS - not in other diseases. As I said above, the vast majority of the literature on this disease does not appear to mention oxidative stress as a possible pathophysiological mechanism, so I'm sure you can understand why I am sceptical of this proposal. TimVickers 15:06, 28 May 2007 (UTC)
Yes, there are lots of papers on uric acid's role as an antioxidant, but almost none on it acting as a pro-oxidant. Similarly, the Ghet at al review "Pathogenesis of hyperuricemia: recent advances." does not mention oxidative stress, neither does the Nyhan review. The Deutsch review does mention oxidative stress, in two sentences at the end of a section. From these reviews, the oxidative hypothesis really does not seem to be very significant in current research. I don't object to this idea being added to the article, perhaps as a few sentences at the end of the pathogenisis section, but it really shouldn't be given more weight than seen in other modern reviews. TimVickers 16:43, 29 May 2007 (UTC)
___________________________________________
I don't know if the text is going to stay, but there's no reason to have three different reference styles cluttering an FA, so I converted the refs to cite.php. Pproctor, I'm not sure citing your own Letter to the Editor rises to the level of reliable sources; isn't that like saying it's so because I said it's so? (added) SandyGeorgia
I'm not finding your responses above are helping explain to me why the content is relevant and focused on LNS, but perhaps Tim is seeing it. Of course, considering your professed expertise in LNS, gosh, it would be nice if you cold cite the rest of the article — not just your own work — so it wouldn't be defeatured. SandyGeorgia ( Talk) 22:23, 28 May 2007 (UTC)
Significantly, uric acid is a powerful reducing substance. As such, it is the single most important extracellular antioxidant, accounting for roughly half of the antioxidant ability of plasma. It may even partially substitute for ascorbic acid in human evolution.
However, like most strong reducing agents, uric acid can also act as a pro-oxidant, particularly at higher concentrations like those in LNS. Further, oxidation of purines by Xanthine oxidase to uric acid produces reactive oxygen species. Thus, free radicals, oxidative stress, and reactive oxygen species may play some role in the etiology of Lesch-Nyhan's syndrome. [1] Such processes also likely figure in other hyperuricemia syndromes such as that in dalmatian dogs, which responds to "Orgotein", a veterinary formulation of bovine liver superoxide dismutase. There is additional experimental support for oxidative stress in LNS. [2] While first proposed in the Lesch-Nyhan syndrome, uric acid-induced oxidative stress is also thought to contribute to the pathogenesis of other diseases such as metabolic syndrome [3] and stroke [4] by similar pathogenic mechanisms.
Likewise, strong reducing substances such as uric acid form Charge transfer complexes with neuromelanin in pigmented midbrain structures such as the substantia nigra and the locus ceruleus. The role of this in LNS is unknown, but it might be related to (e.g.) the extrapyramidal symptoms.
Uric acid is a reducing agent and usually acts act as an antioxidant in the body. However, uric acid can also act as a pro-oxidant, particularly at high concentrations like those produced in LNS. Thus, free radicals, oxidative stress, and reactive oxygen species may play some role in the etiology of Lesch-Nyhan's syndrome. [5]
You-all win. I give up. Again. The traditional medding with the efforts of expert editors that over and over screws up technical articles at Wikipedia. Again, I lodge my usual and customary useless protest. Far as I can tell, nobody here are physicians, have ever worked with LNS, or have much of a clue about the science. Similarly, there is also some artificial "concensus" asserted totally at odds with the guidelines, etc.. Such things rely mainly on the fact that people like me have better (and more profitable) things to do than argue with some lay person who does not know enough to understand what they do not understand. EOF. Pproctor 16:54, 17 June 2007 (UTC)
References
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link){{
cite journal}}
: Explicit use of et al. in: |author=
(
help)CS1 maint: multiple names: authors list (
link)
{{
cite journal}}
: CS1 maint: multiple names: authors list (
link){{
cite journal}}
: CS1 maint: multiple names: authors list (
link)I am offering a small suggestion here, rather than just edit the text myself. I realize that to some this may be nit-picking. I am a physician (a pathologist) and worked in Dr. Seegmiller's lab at UCSD (Dr. Nyhan's lab was one floor above) on many of the issues discussed in this article. Dr. Seegmiller's name, as used in all of his professional citations and honors, was J. Edwin Seegmiller. Although it is true that his friends and close associates sometimes called him "J" (which I guess could become "Jay"), this was a nickname. Given his great contributions to this field, it just struck me as a little less than respectful to refer to him by his nickname. I will also add that I have no major problems with the article as written, considering the general audience of Wikipedia. For those who want to really dig into this, especially those with some background in biochemistry or molecular biology, read the chapter in The Metabolic and Molecular Bases of Inherited Disease (McGraw-Hill, 8th edition, Charles R. Scriver, ed.) Dfuerpo 00:16, 3 July 2007 (UTC)
Hi. This is a bit far afield from any area of my own expertise, but I would imagine that the Taira case study involving deep-brain stimulation [10] as successful treatment of the behavioral symptoms warrants mention in this article, most likely in the "Treatment" section? While it's not a commercially available treatment, it seems to show some promise at the very least. Thoughts? S. Ugarte 03:07, 15 August 2007 (UTC)
Can somebody provide a cite to the "fencing stance" referred to in the main article Pproctor 04:15, 7 October 2007 (UTC)
I'm wondering what the general consensus - or for that matter, Wikipedia policy - is regarding having a section describing ongoing clinical trials for a given disorder. Such trials are usually interested in recruiting patients, and although trials are listed on sites like clinicaltrials.gov I'd think having a mention of them in a related Wikipedia article would be useful. But is it appropriate? —Preceding unsigned comment added by 173.79.248.237 ( talk) 23:54, 1 September 2010 (UTC)
There were two sentences that referred to "LND". I'm guessing that some people call the syndrome "Lesch-Nyhan disorder" and abbreviate accordingly. For consistency, I've changed these instances to "LNS". I'm no expert here, though, so it's possible that the difference reflects something more significant. JamesMLane t c 07:42, 21 March 2011 (UTC)
Any editors willing to write a short section about the prospects for gene therapy for Lesch-Nyhan? I know it was considered in the 80s. El Ingles ( talk) 22:21, 2 March 2013 (UTC)
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![]() | Lesch–Nyhan syndrome is a former featured article. Please see the links under Article milestones below for its original nomination page (for older articles, check the nomination archive) and why it was removed. | |||||||||||||||||||||
|
![]() | This article is rated B-class on Wikipedia's
content assessment scale. It is of interest to the following WikiProjects: | ||||||||||||||||||||||||||||||||
|
![]() | Ideal sources for Wikipedia's health content are defined in the guideline
Wikipedia:Identifying reliable sources (medicine) and are typically
review articles. Here are links to possibly useful sources of information about Lesch–Nyhan syndrome.
|
All this stuff about no evidence that oxidative stress plays no role in hyperuricemic syntromes is flatly nonsense. I suggest a pubmed search is in order. There are so many papers that I am going to have to figure out which ones to include. E.g., superoxide dismutase was found to ameliorate hyperuricemic syndrome in Dalmatian dogs over three decades ago. It is also a favorite mechanism for pathogenesis in atherosclerosis, stroke, and metabolic syndrome. I could go on and on. Nucleophilic ( talk) 15:58, 4 March 2010 (UTC)
Just a small point. Kelley Seegmiller does not equal Lesch Nyhan. Lesch Nyhan is caused by a complete enzymatic deficiency whilst in Kelley seegmiller there is only a partial defect. —Preceding unsigned comment added by 93.96.165.72 ( talk) 19:39, 10 October 2008 (UTC)
Larsie (& Taxman), you have done a great job in creating this detailed article.
I disagree with the comment "Haldane's rule predicts a 2/3 chance that she is a carrier and a 1/3 chance that the son has a new germline mutation". I don't believe that Haldane makes any reference to the incidence of new mutations. Also, is it really necessary to include such a detailed description of X-linked genetics? Why not just include a link.
Axl 23:27, 8 Nov 2004 (UTC)
Correction to the above: apparently there are three Haldane's rules, one of which does make the prediction quoted. While the rule does make the prediction, in this case the prediction is wrong because the mutation rate in males exceeds the rate in females. Axl 14:11, 11 Nov 2004 (UTC)
I must compliment the previous authors on the large amount of work. The restructuring and copyediting I'm doing today has a lot to do with the overlap that has crept into the article. I've also changed a lot of terms that are POVish (malady, affliction). In all, I have not changed any facts, apart from the following:
i don't think all that copy editing did much except for make a mess of the article, the headings now don't exactly pertain to the paragraphs below them and the signs and symptoms is to long, it needs to be broken up. it also seems as though a lot of information was lost -- Larsie 22:20, 10 Nov 2004 (UTC)
I have now included references to the original description of LNS, as well as its linkage to HPRT mutations. I also made a stub for HPRT. Sadly, no recent general review articles have been published. The closest I could get is one by Dr Nyhan himself in 1997 ( PMIDÂ 9211189). If I can get access to the article fulltext I'll present relevant material here for discussion.
I will also look into the basic biochemistry. HPRT does not produce uric acid. Rather, it shunts DNA breakdown products back into new DNA synthesis. Defects of the gene lead to increased siphoning of the purine breakdown material into their "natural" metabolic sink, which happens to be uric acid. The important question is whether the shortage of "recycled" purines is important in the context of LNS. Old memories from medical school tell me that it is. JFWÂ |Â T@lk 17:54, 11 Nov 2004 (UTC)
I believe it is correct to say that LNS only affects males. Females carriers, even those with gouty symptoms, do not have the disease. Osmodiar 08:12, 24 Nov 2004 (UTC)
It's correct to say that the disease is extremely rare in females; it's NOT correct to say it only effects males. See Yukawa, T.; Akazawa, H.; Miyake, Y.; Takahashi, Y.; Nagao, H.; Takeda, E. : A female patient with Lesch-Nyhan syndrome. Dev. Med. Child Neurol. 34: 543-546, 1992. PubMed ID : 1612215 - Nunh-huh 08:21, 24 Nov 2004 (UTC)
OK, but I think it should be stressed that it is overwhelmingly a disease of males, to the point that a female case warrants a write up in a journal. I changed the wording in the introduction back to allow for the possibility of female patients. Perhaps a more detailed discusion of non random X inactivation, new mutations, and other possibilities (Turner syndrome?) could go under the "female" section. Osmodiar 09:09, 24 Nov 2004 (UTC)
Would it be possible to get a picture of one of the custom wheelchairs used by LNS patients -- ie, with saddles, restraints, etc to minimize self-injury? Catherine\ talk 08:17, 24 Dec 2004 (UTC)
From Talk:Lesch-Nyhan Syndrome:
I've decided just to redirect without merge, as it's an obvious copy and paste (probably from someone's paper). sjorford →•↠11:11, 24 Feb 2005 (UTC)
Thank you Paul. It's been a while I last copyedited the article, but I was generally under the impression that it was well sourced and structured. All I did was add some molecular biology and classical references. When I've got some time (I'm on night shift) I'll have a quick scan. JFWÂ |Â T@lk 23:00, 8 Mar 2005 (UTC)
It seems to me that part of wikipedia's goal is to allow anyone access to the information they need. To that end, it seems that the first paragraph is a little incomprehensible to those without a chemistry background. Is it possible to make the first paragraph a little more user-friendly, and maybe go into that kind of detail in a second paragraph? Verloren Hoop 21:28, 11 July 2006 (UTC)
This article's sourcing is miserable. It does not meet FA requirements. JFWÂ |Â T@lk 21:45, 31 March 2007 (UTC)
Removed the following inserted text: [3]
I've taken this out because it adds to the already-existing problem of an uncited article, and has other issues as well. Why was the reference to coprolalia removed? What is the source for this text? Please see WP:RS and WP:MEDMOS). The text contains self-references to this Wiki article, so needs copyediting. There are also self-references to Matheny, which should be removed and sourced. The language is informal, not encyclopedic. (At Matheny, we have come to recognize ... ) The article is not on Matheny's website, so the text is out of place here. "These aggressive behaviors cause others to become angry" is editorializing. Perhaps some of the content here can be sourced, copyedited, and re-added. SandyGeorgia ( Talk) 15:30, 12 April 2007 (UTC)
The idea that other examples of pathogenesis due to urate-induced oxidative stress are not related to Lesch-Nyhans is clearly original research and contrary to the cites in the article. It is unsupported by any literature I know of. If there is, please cite it.
So, I'm going to involke my sole priviledge here as a "expert" to cite the literature and revert the revert. (Damn, I just hate getting into edit fights about stuff I am actually do work on.) Recently, it has become clear that oxidative stress induced by urate is a general mechanism of pathogenesis. Thus, other examples are quite relevant to the Lesch-Syndrome. The literature cited in the article clearly reflects this. The big puzzle with respect to this disease is the odd symptomology. This is ultimately related to it. Also, there has been criticism that the cites on this article are not current. This is an attempt to correct this. Pproctor 14:16, 27 May 2007 (UTC)
Er, experts can cite their own work at arms length, as long as the cites meet the rules. Mine do. Also, you are entirely incorrect about the further cites not supporting the role for oxidative stress in hyperuricemic syndromes. It is a very big deal right now in pathogenesis in general, though it originated with the Lesch-Nyhan syndrome over three decades ago. How else do you explain (e.g.) the efficacy of SOD in hyperuricemic syndrome in Dalmatian dogs?. Also, the concept antedates the term "oxidative stress". So the older papers are not indexed under this on pubmed.
BTW, while we are playing competing experts here-- I'm and MD, PHD with a path residency. I published my first paper on uric acid and the possible physiological role of its redox properties in the journal Nature in 1970 [4]. Check it out. And yes, Ames' rediscovery [5] ten years later is generally cited. The Matthew effect at work, but a good screen for whether someone knows the uric acid literature or not. In research, there is a penalty for being too early.
Uric acid is now firmly established as the putative most important extracellular antioxidant in humans. It is the proxidant properties that likely cause the problems, in LNS, metabolic syndrome and so forth. Not my suggestion about the latter, BTW. likewise, how can anyone possibly claim papers in Nature, Stroke, PNAS, The CRC handbook of Free Radicals and Biomedicine, JBC, and so forth are "original research" or "speculation"?
As for its relevance to LNS-- In fact, I got into the uric acid "biz" after encountering a patient with LNS. This sugested that uric acid might actually be something more than the end product of purine metabolism. This was one of the first identifed cases after the first description of this syndrome. Has anyone else posting here actually seen a case of LNS or published any papers on it? Pproctor 14:06, 28 May 2007 (UTC)
Your expertise is unfortunately irrelevant here, as is mine, since Wikipedia cannot verify our identities. The part of the policy I think this section might have problems with is the section on synthesis of material. This problem would be avoided if you can find papers that address oxidative stress in LNS - not in other diseases. As I said above, the vast majority of the literature on this disease does not appear to mention oxidative stress as a possible pathophysiological mechanism, so I'm sure you can understand why I am sceptical of this proposal. TimVickers 15:06, 28 May 2007 (UTC)
Yes, there are lots of papers on uric acid's role as an antioxidant, but almost none on it acting as a pro-oxidant. Similarly, the Ghet at al review "Pathogenesis of hyperuricemia: recent advances." does not mention oxidative stress, neither does the Nyhan review. The Deutsch review does mention oxidative stress, in two sentences at the end of a section. From these reviews, the oxidative hypothesis really does not seem to be very significant in current research. I don't object to this idea being added to the article, perhaps as a few sentences at the end of the pathogenisis section, but it really shouldn't be given more weight than seen in other modern reviews. TimVickers 16:43, 29 May 2007 (UTC)
___________________________________________
I don't know if the text is going to stay, but there's no reason to have three different reference styles cluttering an FA, so I converted the refs to cite.php. Pproctor, I'm not sure citing your own Letter to the Editor rises to the level of reliable sources; isn't that like saying it's so because I said it's so? (added) SandyGeorgia
I'm not finding your responses above are helping explain to me why the content is relevant and focused on LNS, but perhaps Tim is seeing it. Of course, considering your professed expertise in LNS, gosh, it would be nice if you cold cite the rest of the article — not just your own work — so it wouldn't be defeatured. SandyGeorgia ( Talk) 22:23, 28 May 2007 (UTC)
Significantly, uric acid is a powerful reducing substance. As such, it is the single most important extracellular antioxidant, accounting for roughly half of the antioxidant ability of plasma. It may even partially substitute for ascorbic acid in human evolution.
However, like most strong reducing agents, uric acid can also act as a pro-oxidant, particularly at higher concentrations like those in LNS. Further, oxidation of purines by Xanthine oxidase to uric acid produces reactive oxygen species. Thus, free radicals, oxidative stress, and reactive oxygen species may play some role in the etiology of Lesch-Nyhan's syndrome. [1] Such processes also likely figure in other hyperuricemia syndromes such as that in dalmatian dogs, which responds to "Orgotein", a veterinary formulation of bovine liver superoxide dismutase. There is additional experimental support for oxidative stress in LNS. [2] While first proposed in the Lesch-Nyhan syndrome, uric acid-induced oxidative stress is also thought to contribute to the pathogenesis of other diseases such as metabolic syndrome [3] and stroke [4] by similar pathogenic mechanisms.
Likewise, strong reducing substances such as uric acid form Charge transfer complexes with neuromelanin in pigmented midbrain structures such as the substantia nigra and the locus ceruleus. The role of this in LNS is unknown, but it might be related to (e.g.) the extrapyramidal symptoms.
Uric acid is a reducing agent and usually acts act as an antioxidant in the body. However, uric acid can also act as a pro-oxidant, particularly at high concentrations like those produced in LNS. Thus, free radicals, oxidative stress, and reactive oxygen species may play some role in the etiology of Lesch-Nyhan's syndrome. [5]
You-all win. I give up. Again. The traditional medding with the efforts of expert editors that over and over screws up technical articles at Wikipedia. Again, I lodge my usual and customary useless protest. Far as I can tell, nobody here are physicians, have ever worked with LNS, or have much of a clue about the science. Similarly, there is also some artificial "concensus" asserted totally at odds with the guidelines, etc.. Such things rely mainly on the fact that people like me have better (and more profitable) things to do than argue with some lay person who does not know enough to understand what they do not understand. EOF. Pproctor 16:54, 17 June 2007 (UTC)
References
{{
cite journal}}
: CS1 maint: multiple names: authors list (
link){{
cite journal}}
: CS1 maint: multiple names: authors list (
link){{
cite journal}}
: Explicit use of et al. in: |author=
(
help)CS1 maint: multiple names: authors list (
link)
{{
cite journal}}
: CS1 maint: multiple names: authors list (
link){{
cite journal}}
: CS1 maint: multiple names: authors list (
link)I am offering a small suggestion here, rather than just edit the text myself. I realize that to some this may be nit-picking. I am a physician (a pathologist) and worked in Dr. Seegmiller's lab at UCSD (Dr. Nyhan's lab was one floor above) on many of the issues discussed in this article. Dr. Seegmiller's name, as used in all of his professional citations and honors, was J. Edwin Seegmiller. Although it is true that his friends and close associates sometimes called him "J" (which I guess could become "Jay"), this was a nickname. Given his great contributions to this field, it just struck me as a little less than respectful to refer to him by his nickname. I will also add that I have no major problems with the article as written, considering the general audience of Wikipedia. For those who want to really dig into this, especially those with some background in biochemistry or molecular biology, read the chapter in The Metabolic and Molecular Bases of Inherited Disease (McGraw-Hill, 8th edition, Charles R. Scriver, ed.) Dfuerpo 00:16, 3 July 2007 (UTC)
Hi. This is a bit far afield from any area of my own expertise, but I would imagine that the Taira case study involving deep-brain stimulation [10] as successful treatment of the behavioral symptoms warrants mention in this article, most likely in the "Treatment" section? While it's not a commercially available treatment, it seems to show some promise at the very least. Thoughts? S. Ugarte 03:07, 15 August 2007 (UTC)
Can somebody provide a cite to the "fencing stance" referred to in the main article Pproctor 04:15, 7 October 2007 (UTC)
I'm wondering what the general consensus - or for that matter, Wikipedia policy - is regarding having a section describing ongoing clinical trials for a given disorder. Such trials are usually interested in recruiting patients, and although trials are listed on sites like clinicaltrials.gov I'd think having a mention of them in a related Wikipedia article would be useful. But is it appropriate? —Preceding unsigned comment added by 173.79.248.237 ( talk) 23:54, 1 September 2010 (UTC)
There were two sentences that referred to "LND". I'm guessing that some people call the syndrome "Lesch-Nyhan disorder" and abbreviate accordingly. For consistency, I've changed these instances to "LNS". I'm no expert here, though, so it's possible that the difference reflects something more significant. JamesMLane t c 07:42, 21 March 2011 (UTC)
Any editors willing to write a short section about the prospects for gene therapy for Lesch-Nyhan? I know it was considered in the 80s. El Ingles ( talk) 22:21, 2 March 2013 (UTC)
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