One Gene, Curious Outcomes: Lesch-Nyhan Syndrome

[Ollie1949]

Great video, I found this very interesting, as I studied medical genetics... additionally u are cute :)

[myutmost4christ]

Lo siento, Bonita1574

que Dios te bendiga

[Bonita1574]

Mi hijo de 5 años fue dignosticado con el sindrome Lesch nyhan. En ocaciones me desespero por que no se que hacer cuando el se muerde sus labios,ya le han removido 6 dientes, pero el sigue igual,el labio inferior lo tiene bien maltratado de tanto morderse, me siento impotente cuando lo veo sufrir,de las mordidas que se da...

[gabby5676]

i hrd that this disease is tied into trichotillomania, witch is a form of self-mutilation where you have an overwhelming urg to pull your hair out of your scalp, eyelashes or eyebrows and has some emotional link to it or somthing there born with <--- i am not to sure about tht last part

[Storhonta]

@gabby5676 You mutilate alot of your body, your lips, your tounge, fingers etc.

[leoandcas]

Thanks for the video, it helped me to understand the disease for an apresentation.

[billsfman]

i can't imagine the internal torture this must bring to those that have this syndrome...and those loved ones that live and witness this...i came across this on an episode of Nip/Tuck and had to look it up...it is by far one of the saddest things I have read..I hope they find a cure very soon

[Torekgo]

This disorder is so puzzling. I mean, it's so straight forward in a biochemical sense: mutated DNA = missing enzyme = phenotype. The behavioral aspects though, that's the real draw. How's the limbic system being modulated (or demodulated)? Do we really have it down? The obvious answer is no...but if we're to understand this type of disease, we need to bridge the gap bet. "structure and function" really get in there. wow.

[chilipeeper101]

interesting disease, I'm not sure about the presentation- you appear a bit drunk!

excellent!

[killerkitty777]

@chilipeeper101 thats what i thought lol

[TehThird]

well made indeed. i know someone with LNS, and I would also call the syndrome fascinating.

So few get this desease, but have the exact same symptoms, like spasms and self injury and needs to be strapped. i hope that all LNS affected still gets a good life and alot of caring help. :)

[bholker]

My son has a variant form of LNS he is 21 months. thanks for posting the video.

[mjparis]

wel presented..thanks dr:)

[mjparis]

ive rea cobra event and its realy horrifying

[hanabanana5]

Thanks for clarifying some points for me! I have to do a presentation of genetic diseases and I chose lesch nyhan...no particular reason

and I can't ever say it right!

lesh n(eye)haan

[dirtymexican218]

Thanks for the vid. It helped me understand it more for my research paper

[jcspider]

I just read about Dr. Michael Lesch's recent death and wondered if there was anything up on YouTube about LNS. Thank you for this piece.

[howlongcantheusernam]

ATP is needed to feel, and because these patients lose a lot of ATP when they synthesize purines from scratch, they end up with a deficient in ATP. Babies naturally bite themselves to feel their bodies, and in Lesch-Nyhan, they end up biting too hard trying to feel their fingers,lips, etc.

[cormander]

Also Richard Preston wrote a book called the cobra event that has Lesch-Nyhan Syndrome in it very good book.

[ScientiaVeritasEtLux]

I'm reading that. That's why I was looking up the disease, because I just got to the part where the diagnosis was made on Hector Ramirez(the 5 year old)

[bemoy2k]

v good video well presented and spoken am doing an assignmnet on x linked diseases/syndromes and the info po=rovided is a great help thank you teamriras.

[nidca]

Nice job explaining LND! Do you happen to know where I can locate a small video clip of a patient with LND for a presentation I'm doing? Thanks. :)

[teamriras]

Thanks, it is an interesting disease. I don't know of any clips of patients with LND offhand; I might check with the pediatric or neurology department at a local major hospital. Good luck!