SAMe

At our most recent genetics appointment, we were told about SAMe (S-adenosylmethionine) and it was suggested that we consider having my son take it in addition to his arginine/creatine/glycine cocktail. I don't know a whole lot about it other than it can be used for depression, liver disease and osteoarthritis. Some research suggests that it can have therapeutic potential in treating patients with Alzheimer's. I believe it crosses the blood brain barrier but don't quote me on that.

I'm not sure how this all fits in with Creatine Transporter Deficiency, my limited scientific knowledge certainly doesn't help me wrap my head around it all. I'll find out more at our next appointment this winter and will keep you posted.

In the meantime, check out what awesome things are coming out of the University of Cincinnati. Does SAMe = CincY?

As 2011 draws to a close, I find myself with a renewed sense of optimism and hope for 2012. The last 2 years have been difficult, but not terrible. I'm looking forward to what 2012 will bring.

Treatable Intellectual Disabilites / Developmental Disabilities

I recently came across an amazing compilation of treatable metabolic disorders - 81 in total. Not only does the site highlight the various signs and symptoms of inborn errors of metabolism, it also lists the treatments (where applicable) as well as an explanation of each disease with links to thousands of research articles. It's a one-stop amazing shop designed for clinicians but also accessible to non-professionals like moi. It contains links to 1,296 online resources with access to 2,482 articles!

Check it out: www.treatable-id.org The site has good usability and navigation and contains heaps of info. My only complaint is that the text could do with some a scrub - lots of typos and grammar issues. Then again, these folks aren't in their fields for their writing skills.