Lesch-Nyhan Syndrome

[3pacwest]

:-(

[ghettokhanacademy]

I'm learning about this in my biochem class. sad to see that such a small mutation can cause so much harm.

[luridlorea]

my cousin is a geneticist and she talks about this constantly. Freaky and sad

[vitorgaray]

its interesting, how they can self-biting, i was studying this syndrome, on my college of veterinary medicine, ..my english is bad, I'm brazilian

[AnaAndCigarettes]

It breaks my heart.

[ChristianWeyers]

HGPRT for all!

[datzfast]

i had a urine test uric acid and creatinine ratio, the automated diagnosis by computer was this syndrome. I'm highly intelligent, and my children are normal. the test was 20 years ago.

[Zippo41189]

@datzfast You can be extremely high functioning and still have this syndrome.

[datzfast]

@Zippo 41189

i lied, im not highly intelligent.im above genius and my three daughters are in advanced placement in school , but the story about the laboratory testing is correct.

[Nuel1803]

Tanga tanga ung magulang! Nilagyn ng boxing gloves ung 2 kamay Nya. E sav nga dba cnasaktan dw nla ung sarili nla? Edi lalong ma sasaktan pa lalo cla, bka ma K.O. Pa ahahah lol^^

[joseerock]

just read an article on this today the article couldnt of prepared me for this

[viharsarok]

If I was religious, I'd say: FUCK YOU GOD.

[tonettesky]

I'm with you there, buddy.

[chandin69]

amen

[ESPZ]

@viharsarok It's sad that you are a retard...

[5jerry1]

@viharsarok

It is really hard to believe in a benevolent creator when you see things like this. The jury has always been out on this issue as far as I am concerned, God or no God, but something like this can make a person very angry at nature and life, if not at God himself. Why is something like this even in existence? The people around the victim psychologically suffer as much as the vicyim does physically. I think of this stuff a lot.

[icanesh]

@viharsarok If you WERE religious, you wouldn't have said that.

[viharsarok]

@icanesh If I WERE religious I would be a fucking retard.

[Misskitaa]

i understand all about this as my brother had it but died at 14 years its terrible

[O8SERVER]

Sorry to hear that.

Hopefully with future advances in genomics we will be able to detect and eliminate this disease in embryos.

[illneverunknowyou]

que culera es la vida no mamen, pero bueno ya ni modo ya que alguien suba un video de este sindrome en español

[LaBellaa1984]

How are they when they are grown?

[Jorfapigo]

If treated properly, self mutilation stops and you can see a little neurological development

[lioneye77]

out of curiousity do you have any idea how you can treat the patients?

[Jorfapigo]

Gout problems can be treated with alopurinol...

Neurological manifestation can be reduced with L-DOPA, Diazepam and other drugs.

This disease has NO cure.... treatment only reduce clinical manifestations.

[maxijuanax]

out of this world yang sakit na yan bakit hindi ang mga masasama ang ugali ang magsakit ng ganyan but everything happens 4 a reason

[Pabloso100]

Thanks for sharing this material.

[carlagonzeles]

o-ehm-gee,

i first heard this disease on the book the cabra event, and from then on i was very curious to find out all about this, o do hope so that they may find cure to this disease.

[Jorfapigo]

There is no cure, it's a genetic disease...

Treatment can reduce the signs and symptoms.

Genetic treatment has shown no improvement...

[JPShand]

The cure would be to catch the genetic defect during embryonic development and base your action from there.

...Good reason for abortion if you ask me... but thats just my opinion.

[Jorfapigo]

Mmm a very good reason... but unfortunately, most parents don't know they're "carriers" of the bad gene, so they end up passing this genes to theirs sons... and they realize this when it's too late

[chandin69]

apparently there are two treatments in research stage

1) deep brain stimulation

2) And some unkown compound that is currently being tested on rats but no clinical trials yet.

the drug industry is not interested in this diesease as its is very rare. and they dont get a return on their research investments. so mostly all research done is by academics

[nagogolat]

dapat bunutan lahat ng ngipin para di makasakit.

[tonettesky]

Yes, some parents of children with Lesch-Nyhan Syndrome have had their children's teeth removed to minimize the damage from self-biting.