Over the last few years information on the web has become very accessible. So much so that we neglect to read the long text choosing rather to go for the first link thats available. Usually this happens to be a link to some article on Wikipedia. Wikipedia is an excellent concept. However to consider it as a accurate source of reference would be quite a mistake. There have been numerous articles on the web related to Wiki errors – too many for me to point out here. If one were to look for Lesch Nyhan Syndrome itself, here is how Wikipedia describes it:
Lesch–Nyhan syndrome (LNS), also known as Nyhan's syndrome, Kelley-Seegmiller syndrome and Juvenile gout.
Well I'm afraid there are differences and they are definitely not the same. If they were they would not be called different names.
Lesch Nyhan Syndrome presents the complete absence of the HPRT enzyme.
Kelley Seegmiller Syndrome presents the partial absence of the HPRT enzyme. Twenty five percent of patients with Kelley Seegmiller have partial neurological problems and lack self mutilating behaviors. These are also the cases where there has been no previous family history. (This was told to me by a medical student friend way back in 2001 when this was all new to me and Google was still in its infancy!)
Juvenile gout is the consequence of excessive uric acid in the body resulting from a genetic defect in children.
I had also previously brought to the attention of the forum (2008) some information the TeleSeries “Dr. House” use.
It prompted a discussion on the relation between Stress and Self mutilating behavior.
In conclusion the point I am trying to make is that before we present information on this forum however good intentioned it may be, could we please have references to original source material? In this way we can verify or get in touch with the relevant Doctors if need be.
Your thoughts please..
I'm in agreement with you Dexter. I think our LND families need to be especially careful not to believe everything they hear/read. Each of our boys is unique. And medical science is a moving target.
I like Pub Med