Talk:Leigh syndrome

Confused about "treatment"

The paragraph says there's no cure or effective treatment and then almost immediately describes treatments. Why are these things done (the high-fat diet, the vitamins, etc?) Some explanation would be helpful, to clarify an otherwise confusing and contradictory paragraph. 66.26.95.207 (talk) 01:25, 29 September 2011 (UTC)

I'm not an expert on Leigh's Disease, but I am a mother of a three year old daughter who was diagnosed with it almost two years ago. All of my information comes from what her doctor, a specialist in metabolism and molecular genetics, has told me and of course my personal experience with my daughter. Lactic acidosis is generally a pretty big problem with Leigh's. The diet (usually a ketogenic diet, or one slightly modified) helps the body with it's lactic acid problems, which can be that the body makes to much and usually can't get rid of it properly. When my daughter was put on this diet we saw a dramatic decrease in her seizure activity within a matter of days. The vitamins and supplements are used to help the body stay at regular levels. They may not cure or even treat very well, but they do help. Coenzyme Q10, for instance, usually helps with energy levels. We saw that change the same day she started taking it. There is nothing that can be done at this point to stop the progress of Leigh's Disease, but when you're a parent watching it slowly take your baby... even the treatments that seem pointless may be what gives you one more day with them. Hope I helped. ZannahRain (talk) 13:06, 21 February 2012 (UTC)

Re

Re: Below note on inheritance. Leigh's Disease can be inherited via the mitochondrial DNA (mtDNA), Nuclear DNA, or it can be X-Linked. There are documented cases of all 3 inheritance patterns.

Inheritance

I am almost 100% sure that the cause underlying Leigh`s disease is not a mutation in the mDNA (I also think this must be mtDNA) but that the defect is nuclear encoded. In this case it is autosomal or x-linked recessive inherited.

There are a few types of Leigh's disease. What you're referring to is the X linked Leigh's disease which is not a mutation in the Oxidative Phosphorylation enzymes (which are both on the mtDNA and the nuclear DNA). The X-linked Leigh's disease is a mutation of the gene encoding the E1-alpha subunit of the pyruvate dehydrogenase complex, which is located on the X chomosome. More information on this can be found at OMIM.--Nate 18:54, 18 September 2006 (UTC)

WikiProject class rating

This article was automatically assessed because at least one WikiProject had rated the article as start, and the rating on other projects was brought up to start class. BetacommandBot 16:28, 10 November 2007 (UTC)

Info on Dr. Marie Sanzalone

Hi, just curious if anybody else thinks that the information about Dr. Sanzalone should be removed from this page about "Leigh's disease" and moved to a separate biographical article about her, which doesn't exist at this point as far as I can tell. thanks. —Preceding unsigned comment added by Fythrion (talk • contribs) 20:13, 3 March 2008 (UTC) I've removed it because it was unsourced. Filip en (talk) 23:02, 30 March 2008 (UTC)

Disease or syndrome?

OMIM designates it as the latter; maybe because it is caused by so much different mechanisms. --CopperKettle 19:22, 27 January 2010 (UTC)

I need to add these links as a citation for what I just added on the treatment section

I would like to add these as the references

https://www.nature.com/articles/ncomms12317?WT.feed_name=subjects_cell-biology

https://www.jstage.jst.go.jp/article/internalmedicine/43/5/43_5_427/_pdf/-char/en Canyouguessmyname (talk) 16:50, 3 December 2017 (UTC)

Please, see Wikipedia:Citing sources. Ruslik_Zero 19:58, 3 December 2017 (UTC)

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Hypertrichosis

"Hypertrichosis is seen in Leigh syndrome caused by mutations in the nuclear gene SURF1.[6]"

Surely this should be Hypertrophic cardiomyopathy a heart condition with links to SURF1 deficiencies not Hypertrichosis excessive hair growth. — Preceding unsigned comment added by 193.1.229.2 (talk) 11:27, 29 January 2020 (UTC)

Survival

My son was diagnosed with Leigh’s at a year old he is now 14 years old and still growing strong he is an amazing and determined wonderful young man the doctors don’t know how he’s lived so long as he was given to the ages of 3 to live he’s my little miracle 2A02:C7E:3A4E:9A00:10B:3852:1F65:575D (talk) 08:26, 28 June 2023 (UTC)