Ohio Network on Clark's Announcement

Ohio Network has published an interview with parents of a patient and Dr Clark that is quite interesting:
http://www.onntv.com/content/stories/2012/07/03/story-autism-study.html

Sensational News from Research

On Monday Dr Clark from Cincinatti announced great news on his Facebook Creatine Transport Deficiency Group:
"Dear creatine deficiency group,
I am pleased to announce that today we published this article:http://www.jci.org/articles/view/59373, in the highly prestigious Journal of Clinical Investigation demonstrating that we have found a treatment for the creatine transporter deficiency. This research has, to date, only been done in mice with the disease, but the treatment is with a repurposed drug that has already been through PART of the FDA approval process. It is not approved for CTD, nor is it available for treating any disease. However we now know that we can treat this disease and are in what we hope will be the final stretch for treating boys with this disease. 
I will always update the group as things progress. What you can do is tell your physicians to be aware of this paper and be ready..."

The Link to the paper can be found under:

http://www.jci.org/articles/view/59373

Women affected by the Creatine Transporter Deficiency

Of course also girls / women can be affected by the creatine tranporter deficiency. As the defect is x-linked women more seldom face problems with mental retardation or learning problems than men.
Nevertheless the following study, published 2010, by JM van de Kamp et al shows that also women can face severe handicaps from the deficiency:
"Clinical features and X-inactivation in females heterozygous for creatine transporter defect"


The diagnosis of the deficiency in women seems to be much more difficult than in men.
I have added the link also to our link list today.

Facebook group on creatine diseases

Joseph F. Clark, Ph.D.,Professor of Neurology at the University of Cincinnati has started a facebook group on creatine diseases "to bring together bloggers, scientists, physicians, caregivers and patient advocates".  He answers questions and gives updates on research. It is really worth reading...
http://www.facebook.com/#!/home.php?sk=group_127389967322193.