Patient Update February 9, 2007

Patient has not followed supplement protocol over the period of past week and reports from family about paranoia and psychosis have been relayed. Work schedule and vacation interferes with daily updates. I decided daily updates will not be necessary for blog at this time.

Had conversation with Patient about options: supplements or drugs. Since I am not seeing a significant reverse of paranoia or psychosis or memory deficit baseline behavior without heavy supplementation, I am ready to test a drug.

Based on the findings of the PRODH deficiency study, I have faxed a 24 page document to the Neurologist requesting a review and comment on the study as well as recommendation for a test period of Lamotrigine (drug.) I provided the study and info from wikipedia about the drug which I had been searching for over the past few weeks since finding the study details.

Here's my Letter to the Doctor:

I am providing information for your review and comment regarding prescribing Lamotrigine for Patient (blank). I have been keeping a blog (web journal http://orthosz.blogspot.com) of research and daily progress for Patient. Based on the findings of a study and what I have learned by controlling diet and supplements and monitoring daily, I would like to have you review the attached information for comment and possible prescription to target the regulation of glutamate. The findings of the study essentially report the following:

1. glutamate toxicity factor - loss of PRODH gene function directly causes hyperactivity of nerves that use glutamate to signal other nerves.
2. dopamine toxicity factor - loss of PRODH gene function causes upregulation of COMT gene responsible for encoding the enzyme that breaks down dopamine.
3. upregulation of COMT gene is not possible in patients with 22q11 microdeletion which causes toxic buildup of dopamine {and psychosis/paranoa in Patient.}
4. PRODH deficiency increases release of glutamate at synapses in hippocampus and inhibits LTP, important step in forming memories.
5. Lack of glutamate regulation due to loss of PRODH contributes to learning difficulties.

Over the period of time since our last visit I have learned that the supplement L-Theanine (apparently) has a direct boost effect on Dopamine and for this Patient, caused paranoia and psychosis. We have known for a long time that excess sugar in the diet has also triggered the psychosis and paranoia, just not as quickly as Theanine (a green tea extract.)

Lamotrigine would target the glutamate regulation, help to control the seizures, and control the drop attacks. I am hopeful that it may prevent the chain reaction of Dopamine toxicity as well. If the glutamate release at hippocampal neurons is presently toxic, this drug may help improve the memory which at is a steady, slow deficit currently.

Patient's mother suffered from seizures that eventually robbed her of memory. Patient has been experiencing daily morning dizziness. I am aware that for many people seizures occur in the twilight sleep just as they begin to wake up. We have used a GABA enhancing supplement called Kavinace (Phenibut, Taurine) which eliminated seizures and dizziness during the day. However, this is smoke and mirrors if what is broken has to do with regulating glutamate. Even with morning and evening doses of Kavinace we did not prevent the morning dizziness that occurred when first getting out of bed-possibly a partial seizure.

end of Letter