(((*** 40 years on vitamin b6 ***)))

[Andrew]

20th February 2011: It was on this day, 40 years ago, that my then paediatrician first administered Pyridoxine HCl (vitamin B6) in the hopes that it would stop my severe seizures.

Here is my story regarding B vitamins:

I had my first seizure at two weeks old. I spent the first six months of my life in and out of hospital. Doctors were mystified by my illness. None of the ‘normal’ antiepileptic drugs that were administered had any positive effects. At this time I was having many ‘different types’ of seizures a day some of which went status. Countless tests were being done including, EEGs, lumber punctures… etc. A top pediatrician from the main city hospital told my mother that he was going to a meeting. He said he would talk about me in the hope that someone there would be able to help us. At this meeting there was a professor who was doing research into childhood epilepsy. He suggested a trial of Pyridoxine Hydrochloride (vitamin B6). Pyridoxine Hydrochloride was administered (I was five months old). Within two to three days my mother noticed a big difference in me. I’d stopped having severe seizures. Because of the positive effects that Pyridoxine had on my seizures doctors slowly weaned me off all the antiepileptic drugs (this was back in 1970-71). I’ve been taking Pyridoxine Hydrochloride on a daily bases ever since.

I was still experiencing my aura when taking vitamin B6 only, so when I was 19 years old, with my doctor's consent, I added a multi B complex tablet to my daily medication. This stopped my aura.

I have only used B vitamins to control my extremely rare, Atypical form of Pyridoxine (vitamin B6) Dependent Epilepsy.

Without B vitamins (mainly vitamin B6 (pyridoxine HCL)) I would probably be mentally impared or worse due to severe seizure activity.

Here is a puzzle I can solve: http://en.wikipedia.org/wiki/V-Cube_7

Here is a question that I wrote to fermilab and their reply:

http://www.fnal.gov/pub/inquiring/questions/blueberry.html

Apart from an absent type seizure all my different types of seizures are pretty well controlled.

Here is some information on vitamin B6 Dependent Seizures:

http://ghr.nlm.nih.gov/condition/pyridoxine-dependent-epilepsy

http://ghr.nlm.nih.gov/condition/pyridoxal-5-phosphate-dependent-epilepsy

http://www.ncbi.nlm.nih.gov/omim/266100

http://wapedia.mobi/en/Vitamin_B6

B vitamins - for me - are the equivalent of your AED(s).

**DO NOT ALTER ANY MEDICATION WITHOUT YOUR DOCTOR'S CONSENT**

Regards,

Andy

 

[maddiesmom]

Andrew, Do you know if there is a definitive test yet for B6 seizures? My daughter's seizures stopped after three days on b6, three days BEFORE surgery to remove a brain tumor. Her EEG cleared up after the tumor removal so the doctor has always attributed it to that. But I have noticed absense and nocturnal seizures over the past several years and have upped the B6 but would love professional guidance on this. For me, the fact that the seizures stopped BEFORE surgery on b6 was always quite telling for me. And are there any new guidelines with regard to "how much" b6.

 

[Andrew]

Hi Maddiesmom,

You may find this of interest: http://www.ncbi.nlm.nih.gov/books/NBK1486/

also: http://faculty.washington.edu/sgospe/pyridoxine/index.html

Regards,

Andy

 

[Andrew]

Mutations in PROSC Disrupt Cellular Pyridoxal Phosphate Homeostasis and Cause Vitamin-B6-Dependent Epilepsy

https://www.cell.com/ajhg/pdfExtended/S0002-9297(16)30447-5

 

[Freda]

That is so interesting Andrew, I've passed this on to my daughter who developed epilepsy eighteen months ago at age 36. At the time her dad had been diagnosed with terminal cancer and as she's a medical secretary at the hospital he was being treated at (Southend Essex) she would arrange his appointments and go with him each time - there were times he'd just up and walk out if he had to wait (obviously he was under immense stress) and my daughter was under extreme pressure from him too. It's thought that this stress added to her developing seizures but we will never know for sure. She does take B complex but will be very interested to know what dose you take and how often - the constant changing of epilepsy meds take their toll as well as her loss of independence. She copes well and still holds her full time job but it's hard to watch the changes some of these meds have had on her, we recently had to make a 4am trip to A&E due to Stevens-Johnson syndrome and a very sudden severe rash with flu like symptoms.
Obviously she wouldn't change her meds without consulting with her neurologist but she could talk to her about adding more B6 and complex.

 

[Andrew]

"Pyridoxine responsiveness in novel mutations of the PNPO gene"

Two unrelated patients homozygous for the p.Arg225His mutation experienced status epilepticus when switched to pyridoxal 5′-phosphate (PLP)

In 2005 and 2006, the molecular background of the 2 most prevalent forms of vitamin B6-dependent epilepsies due to inborn errors of metabolism, namely pyridoxal 5′-phosphate oxidase (PNPO) deficiency and pyridoxine-dependent epilepsy due to antiquitin deficiency, was elucidated.1,2 Clinically both disorders present with neonatal mixed multifocal myoclonic tonic seizures that may be accompanied by primary poor adaptation, epileptic encephalopathy, and high mortality if causal treatment is delayed.

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4001193/

 

[Andrew]

"The Ketogenic Diet and Brain Metabolism of Amino Acids"

The Ketogenic Diet and Brain Metabolism of Amino Acids: Relationship to the Anticonvulsant Effect

In many epileptic patients, anticonvulsant drugs either fail adequately to control seizures or they cause serious side effects. An important adjunct to pharmacologic therapy is the ketogenic diet, which often improves seizure control, even in patients who respond poorly to medications. The mechanisms that explain the therapeutic effect are incompletely understood. Evidence points to an effect on brain handling of amino acids, especially glutamic acid, the major excitatory neurotransmitter of the central nervous system. The diet may limit the availability of oxaloacetate to the aspartate aminotransferase reaction, an important route of brain glutamate handling. As a result, more glutamate becomes accessible to the glutamate decarboxylase reaction to yield gamma-aminobutyric acid (GABA), the major inhibitory neurotransmitter and an important antiseizure agent. In addition, the ketogenic diet appears to favor the synthesis of glutamine, an essential precursor to GABA. This occurs both because ketone body carbon is metabolized to glutamine and because in ketosis there is increased consumption of acetate, which astrocytes in the brain quickly convert to glutamine. The ketogenic diet also may facilitate mechanisms by which the brain exports to blood compounds such as glutamine and alanine, in the process favoring the removal of glutamate carbon and nitrogen.

The above quotes were taken from the following URL:

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4237068/

Within the above quoted paragraph I have made bold the enzymes aspartate aminotransferase and glutamate decarboxylase. Both are vitamin B6 (PLP) dependent enzymes.

Aspartate transaminase (AST) or aspartate aminotransferase, also known as AspAT/ASAT/AAT or (serum) glutamic oxaloacetic transaminase (GOT, SGOT), is a pyridoxal phosphate (PLP)-dependent transaminase enzyme...

The above quote was taken from the following URL:
https://en.wikipedia.org/wiki/Aspartate_transaminase

Glutamate decarboxylase or glutamic acid decarboxylase (GAD) is an enzyme that catalyzes the decarboxylation of glutamate to GABA and CO2. GAD uses PLP as a cofactor.

The above quote was taken from the following URL:
https://en.wikipedia.org/wiki/Glutamate_decarboxylase

also see:

Alanine transaminase

ALT (and all aminotransferases) require the coenzyme pyridoxal phosphate, which is converted into pyridoxamine in the first phase of the reaction, when an amino acid is converted into a keto acid.

=============================

**DO NOT ALTER ANY MEDICATION WITHOUT YOUR DOCTOR'S CONSENT**

 

[Andrew]

Disorders affecting vitamin B6 metabolism

 

[Clovis]

When I as in the hospital with my broken back there was a neurologist that came in to see me. He recommended I go back on my Keppra, lowwer dose, and take a very high dose of B6 to help with the side effects and seizure control. Trouble is, we can't find anywhere to get it in the amount he recommended and my doctors weren't interested in giving it to me by prescription.

 

[Andrew]

In another study to examine the use of pyridoxine, Major et al. [8] analyzed 42 pediatric patients who had been treated with LEV and pyridoxine. Twenty-two patients started pyridoxine after being on LEV, due to behavioral side effects, and significant behavioral improvement was observed in nine (41%), no effect in eight (36%), deterioration in four (18%), and an uncertain effect in one.

Does pyridoxine control behavioral symptoms in adult patients treated with levetiracetam? Case series from UAE

Important note: I have never used Keppra with my B vitamins.

 

[Ouarezki]

THANK YOU for posting this Andrew

 

[Andrew]

"THE BIOCHEMICAL INVESTIGATION OF GENETIC DISORDERS RESPONSIVE TO VITAMIN B6 SUPPLEMENTATION"

 

[suebear]

Have never taken Vitamin B6, went right to B-Complex and two other items suggested by back neurologist to rebuild back nerve damage.

 

[Andrew]

The loss of circadian PAR bZip transcription factors results in epilepsy

The following quoted sub title was taken from the above article:

"PAR bZip proteins regulate the expression of pyridoxal kinase, an enzyme involved in the activation of vitamin B6"


**DO NOT ALTER ANY MEDICATION WITHOUT YOUR DOCTOR'S CONSENT**

 

[suebear]

I've been working with a pharmaceutical person along with my medical doctor on the matter and information given has said that all Vitamin B items when at full capacity will will leave the human body through urine. This was confirmed through the pharmacy a few times as I said this medication is being used for a back injury that took place in 1998 and I have been taking Vitamin B Complex once a day for the benefit of rebuilding my nerve damage under the guidance of a pain management specialist. I'm constantly being monitored by the pain management doctor and it has been stated if there are any questions to ask she or the hospital pharmacist which I do exactly that and I get very good and helpful information for my health benefits. I've never had any issues that will go against nor cause epilepsy issues.

 

[Andrew]

Chapter 5: Vitamin B6 and serotonin metabolism in autism

Vitamin B6 and serotonin metabolism in neurological disorders of childhood

Commonly used antiepileptic drugs are typically ineffective against metabolic epilepsy as they do not address its root cause.

Treatment, Therapy and Management of Metabolic Epilepsy: A Systematic Review - PMC

Metabolic epilepsy is a metabolic abnormality which is associated with an increased risk of epilepsy development in affected individuals. Commonly used antiepileptic drugs are typically ineffective against metabolic epilepsy as they do not address ...

www.ncbi.nlm.nih.gov

It is now almost 50 years since B6 was first prescribed for the control of my vitamin b6 dependent seizures which are drug resistant.

**DO NOT ALTER ANY MEDICATION WITHOUT YOUR DOCTOR'S CONSENT**

 

[Andrew]

20th February 2021 will be my 50th anniversary using prescribed B6 for the control of my vitamin b6 dependent seizures (namely: PNPO Deficiency).

**DO NOT ALTER ANY MEDICATION WITHOUT YOUR DOCTOR'S CONSENT**

 

[Andrew]

High-dose vitamin therapy stimulates variant enzymes with decreased coenzyme binding affinity (increased Km): relevance to genetic disease and polymorphisms

 

[Andrew]

Vitamin B6‐dependent genetic epilepsy was recently associated to mutations in PLPBP (previously PROSC), the human version of the widespread COG0325 gene that encodes TIM‐barrel‐like pyridoxal phosphate (PLP)‐containing proteins of unclear function. We produced recombinantly, purified and characterized human PROSC (called now PLPHP) and its six missense mutants reported in epileptic patients.

Insight into vitamin B6‐dependent epilepsy due to PLPBP (previously PROSC) missense mutations - Tremiño - 2018 - Human Mutation - Wiley Online Library

 

[Andrew]

ALDH7A1 Deficiency, PNPO Deficiency and PLPBP Deficiency are three different genetic causes of B6 Dependent/Responsive Epilepsies. I have had a genetic test to confirm PNPO Deficiency.

Vitamin B6‐responsive epilepsies are a group of genetic disorders including ALDH7A1 deficiency, PNPO deficiency, and others, usually causing neonatal onset seizures resistant to treatment with common antiepileptic drugs. Recently, biallelic mutations in PLPBP were shown to be a novel cause of vitamin B6‐dependent epilepsy with a variable phenotype.

Diagnostic pitfalls in vitamin B6‐dependent epilepsy caused by mutations in the PLPBP gene - Jensen - 2019 - JIMD Reports - Wiley Online Library