One Gene, Curious Outcomes: Lesch-Nyhan Syndrome

Annals of Medical School discusses one of the more obscure illnesses that we have learned about this year, Lesch-Nyhan Syndrome, and its origin in a mutation of one gene. Relating to a recent article in the New Yorker on the syndrome, the mechanism of illness and several of the strange self-injurious effects of the disease are elaborated. www.annalsofmedicalschool.blogspot.com

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Tags:

• Lesch-Nyhan
• HGPRT
• HPRT
• purine
• salvage
• self-mutilation
• uric
• acid
• basal
• ganglia

[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!

[Ollie1949]

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

[Storhonta]

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

[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...