Creatine transporter deficiency syndromes can cause a profound form of mental retardation due to a lack of creatine in the brain. There are up to 80,000 patients with one of these three diseases causing creatine deficiency in the brain. There are successful treatments for 2 of the 3 creatine deficiency disorders with a lot of work ongoing to develop treatments for the third cause of the disorder.

Creatine supplementation in the diet is a highly successful therapy for the two creatine synthesis disorders. So if the body cannot make sufficient creatine it still uses creatine from the diet if enough is eaten. The two creatine synthesis disorders are called GAMT and AGAT.

The third cause for creatine deficiency in the brain is because of a mutation in the protein that transports creatine into the brain. The patients with the creatine transporter deficiency are all profoundly mentally retarded males as the disease is an x-linked disorder. Females are carriers of the disorder and can be mildly affected.

Creatine is lacking in the brains of patients with the transporter deficiency and due to a lack of functional protein creatine in the diet is not a successful treatment option. Several scientists, physicians and families have tried dietary supplements, including precursors of creatine synthesis, but with no real benefit because there is poor to little evidence that the brain makes creatine. What is needed is a method to get creatine into the brain or a reasonable facsimile of creatine in.

What kind of drug is a reasonable facsimile of creatine? Well the answer at this time is we do not know. We cannot randomly start giving creatine like compounds to patients. Do not despair however because there is an ideal way to screen compounds as possible treatments for patients with creatine transporter deficiency. That is a mouse with the disease has been made by researchers in Cincinnati. See http://www.plosone.org/article/info%3Adoi%2F10.1371%2Fjournal.pone.0016187 for more information.

http://www.plosone.org/article/info%3Adoi%2F10.1371%2Fjournal.pone.0016187

This is great news because a new drug would never be approved by the FDA if it was not tested and shown to be safe and effective in an animal before being tested in humans. If no animal had the disease, then no proof of effectiveness could be demonstrated. Now with this mouse with the disease new drugs can be tested as treatments for the creatine deficiency patients.

Please be assured that the scientists and researchers in Cincinnati are testing drugs on these mice and trying to make the retarded mice smarter. Cincinnati is where the first patients with creatine transporter deficiency were found so there is a long history of quality research and knowledge concerning creatine deficiencies being applied to the problem of treating patients with creatine transporter deficiency. Some of the most experienced researchers concerning creatine and creatine deficiencies are in Cincinnati working hard to treat these patients (http://www.amazon.com/Creatine-Phosphate-Scientific-Clinical-Perspectives/dp/0121863409/ref=sr_1_1?ie=UTF8&s=books&qid=1299893026&sr=8-1).