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https://rarediseases.info.nih.gov/diseases/6667/homocystinuria-due-to-cbs-deficiency
Homocystinuria due to CBS deficiency
Summary
Homocystinuria due to CBS deficiency is an inherited disorder in which the body is unable to process certain building blocks of proteins (amino acids) properly. This form of homocystinuria is caused by the lack of an enzyme called cystathionine beta-synthase, which results from a mutation in the CBS gene. It is characterized by dislocation of the lens in the eye, an increased risk of abnormal blood clots, and skeletal abnormalities. Problems with development and learning are also evident in some cases. Homocystinuria due to CBS deficiency is inherited in an autosomal recessive pattern.[1] Treatment aims to correct the biochemical abnormalities, especially to control blood homocystine concentration and prevent thrombosis (blood clots). Vitamin B6 (pyridoxine) therapy, protein-restricted and methionine-restricted diets, betaine treatment, and/or folate and vitamin B12 supplementation may be used to manage the condition.[2]
Symptoms
The Human Phenotype Ontology (HPO) provides the following list of features that have been reported in people with this condition. Much of the information in the HPO comes from Orphanet, a European rare disease database. If available, the list includes a rough estimate of how common a feature is (its frequency). Frequencies are based on a specific study and may not be representative of all studies. You can use the MedlinePlus Medical Dictionary for definitions of the terms below.
| Signs and Symptoms | Approximate number of patients (when available) |
| Abnormality of amino acid metabolism | Very frequent (present in 80%-99% of cases) |
| Arachnodactyly | Very frequent (present in 80%-99% of cases) |
| Dental crowding | Very frequent (present in 80%-99% of cases) |
| Disproportionate tall stature | Very frequent (present in 80%-99% of cases) |
| Ectopia lentis | Very frequent (present in 80%-99% of cases) |
| Intellectual disability | Very frequent (present in 80%-99% of cases) |
| Osteoporosis | Very frequent (present in 80%-99% of cases) |
| Recurrent fractures | Very frequent (present in 80%-99% of cases) |
| Amblyopia | Frequent (present in 30%-79% of cases) |
| Arterial thrombosis | Frequent (present in 30%-79% of cases) |
View complete list of signs and symptoms...
Diagnosis
Making a diagnosis for a genetic or rare disease can often be challenging. Healthcare professionals typically look at a person™s medical history, symptoms, physical exam, and laboratory test results in order to make a diagnosis. The following resources provide information relating to diagnosis and testing for this condition. If you have questions about getting a diagnosis, you should contact a healthcare professional.
Testing Resources
- The Genetic Testing Registry (GTR) provides information about the genetic tests for this condition. The intended audience for the GTR is health care providers and researchers. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.
Newborn Screening
- An ACTion (ACT) sheet is available for this condition that describes the short-term actions a health professional should follow when an infant has a positive newborn screening result. ACT sheets were developed by experts in collaboration with the American College of Medical Genetics.
- An Algorithm flowchart is available for this condition for determining the final diagnosis in an infant with a positive newborn screening result. Algorithms are developed by experts in collaboration with the American College of Medical Genetics.
- Baby's First Test is the nation's newborn screening education center for families and providers. This site provides information and resources about screening at the local, state, and national levels and serves as the Clearinghouse for newborn screening information.
- The Newborn Screening Coding and Terminology Guide has information on the standard codes used for newborn screening tests. Using these standards helps compare data across different laboratories. This resource was created by the National Library of Medicine.
- National Newborn Screening and Global Resource Center (NNSGRC) provides information and resources in the area of newborn screening and genetics to benefit health professionals, the public health community, consumers and government officials.
Treatment
The resources below provide information about treatment options for this condition. If you have questions about which treatment is right for you, talk to your healthcare professional.
Management Guidelines
- GeneReviews provides current, expert-authored, peer-reviewed, full-text articles describing the application of genetic testing to the diagnosis, management, and genetic counseling of patients with specific inheritedconditions.
- The [Edited link out] for Homocystinuria due to CBS deficiency was developed as a free service of the National Organization for Rare Disorders (NORD) and it's medical advisors. The guides provide a resource for clinicians about specific rare disorders to facilitate diagnosis and treatment of their patients with this condition.
- Orphanet Emergency Guidelines is an article which is expert-authored and peer-reviewed that is intended to guide health care professionals in emergency situations involving this condition.
FDA-Approved Treatments
The medication(s) listed below have been approved by the Food and Drug Administration (FDA) as orphan products for treatment of this condition. Learn more orphan products.
- Betaine (Brand name: Cystadane ) - Manufactured by Jazz Pharmaceuticals
FDA-approved indication: Treatment of homocystinuria to decrease elevated homocysteine blood levels.
National Library of Medicine Drug Information Portal
Medline Plus Health Information
we all know accutane plays with b12,folate and homocysteine levels. can accutane maybe effect these on a genetic level?
So we'd have to agree that methylation might affect only some of us correct? - definitely worth pursuing looking into genes etc though to find out.
It gets extremely confusing though on where to go next on this forum when there's schools of thought saying get on the Iodine and fix the Thyroid. Then someone else will post how unbelievable they feel after Testosterone therapy.
Do these people not have a problem with methylation too I have to ask???
In extreme cases where victims have had to have sections of their colon removed due to Accutane, again was this because of a methylation problem or nothing at all???
I ask this in trying to get to the root cause of what our problem is but it's becoming clear that what might be happening with one victim may not be happening with another which just makes the process of getting out of this mess that much harder as you plug away at one protocol not knowing if it's the one you should be following over another protocol....
And don't get me started on the blood tests that rarely ever conclude anything - I mean has anyone had a B Vit test that comes back low and even so, after taking B vitamins did anyone ever get cured? I'm going to say NO!!
And also on the SAM e front - been there done that, it helps with depression for sure without the side effects of other depression meds but if you've got head pressure and light sensitivity like I do it's no cure I'm sorry to say.
8 hours ago, TrueJustice said:Sorry to hear you've become a victim.Just curious, did you not see the dangers of this drug online or did your doctor not mention them to you, there's plenty of info easily available these days!?
Admittedly when I went on it in 1998 there was no online info at the time, my dermatologist did warn me though of some of the dangers but not all, I went on it anyway as I was over dealing with acne.
As a young person there is the overwhelming desire to get rid of acne at any cost coupled with the belief that we are bulletproof and we'll be alright - this is disastrous with this drug!!
My suggestion at this stage is to live as healthy as possible, watch your Vit A intake esp via dairy products.
I knew that it had terrible side effects for some, but not always for others. I haven't had many side effects... but I am worried that I have exceeded the maximum dose. How is this worked out? Can someone here help me do it?
Whilst I am okay now, reading this thread makes me scared that my high dose is going to create side effects after stopping.
8 hours ago, TrueJustice said:It gets extremely confusing though on where to go next on this forum when there's schools of thought saying get on the Iodine and fix the Thyroid. Then someone else will post how unbelievable they feel after Testosterone therapy.
Do these people not have a problem with methylation too I have to ask???
I think we just need to use discretion and common sense. Some of these are pretty cut and dry, like if you are tested for low testosterone then you might want to treat it. if you are diagnosed with hypo or hyperthyroidism then of course you treat it. even looking at these genetic mutations, its hard to say if they really mean anything. Some of these are pretty common in the general population.
Whats most frustrating is all the people that complain about head pressure, inflammation, brain fog, (maybe we should call it memory loss) gum disease, tongue coating, breathing issues, eye sensitivity, hair loss, muscle weakness,depression,anxiety, thin skin,muscle twitching.
We got all this in common and still cant figure one thing out.
its like report your sides? well ive been trying. I still cant find one dr recognized, quantifiable thing wrong with me. So what sides? its all discretionary. Thats why id like to find something alot deeper then reporting sides. Id like to report a lawsuit. unfortunately now so much time has passed.
On 4/12/2017 at 9:27 PM, MonsterDiesel said:Has anyone ever tested their vitamin a levels?
i've had my vitamin a levels checked too. normal. I was wondering though would accutane or 13-cis retinoic acid look like normal vitamin a in the blood?
3 minutes ago, Weltschmerz47 said:On 4/3/2017 at 0:05 AM, cnb30 said:Didnt you guys say that not masterbatimg for long enough will bring back your sex drive on ots own?
no porn, but masturbation is fine in moderation (less than once a day)
Why in the world does porn make it worse?
On 4/3/2017 at 10:45 PM, Colinboko said:On 4/3/2017 at 10:32 PM, guitarman01 said:Retinoic Acid Restores Adult Hippocampal Neurogenesis and Reverses Spatial Memory Deficit in Vitamin A Deprived Rats
Emilie Bonnet, Katia Touyarot, Serge Alfos,V©ronique Pallet, Paul Higueret, Djoher Nora Abrous
- Abstract
A dysfunction of retinoid hippocampal signaling pathway has been involved in the appearance of affective and cognitive disorders. However, the underlying neurobiological mechanisms remain unknown. Hippocampal granule neurons are generated throughout life and are involved in emotion and memory. Here, we investigated the effects of vitamin A deficiency (VAD) on neurogenesis and memory and the ability of retinoic acid (RA) treatment to prevent VAD-induced impairments. Adult retinoid-deficient rats were generated by a vitamin A-free diet from weaning in order to allow a normal development. The effects of VAD and/or RA administration were examined on hippocampal neurogenesis, retinoid target genes such as neurotrophin receptors and spatial reference memory measured in the water maze. Long-term VAD decreased neurogenesis and led to memory deficits. More importantly, these effects were reversed by 4 weeks of RA treatment. These beneficial effects may be in part related to an up-regulation of retinoid-mediated molecular events, such as the expression of the neurotrophin receptor TrkA. We have demonstrated for the first time that the effect of vitamin A deficient diet on the level of hippoccampal neurogenesis is reversible and that RA treatment is important for the maintenance of the hippocampal plasticity and function.
???
ive seen that too.. we definitely have an ongoing imbalance in our retinoids.. im sure there is a retinoic acid deficiency or insensitivity in like a lack of synthesis or something (downregulation of synthesis in testes as a result of supersaturation with isotretinoin metabolites), especially in the gonads.. check this out.
>this does not discount the theory that accutane is still in our bodies. in fact, the opposite. if synthetic retinoids are bound to receptors in mportant areas like skin testes brain, then the proper retinoids are displaced and cannot be utilized effectively..
In addition, vitamin A-deprived but retinoic acid-supplemented male rats exhibit hypogonadism and infertility due to lack of local retinoic acid synthesis in the testis; similar treatment of female rats causes infertility due to fetal resorption caused by a lack of local retinoic acid synthesis in the embryo.[8][9] The retinoic acid synthesis in testes is catalyzed primarily by the RALDH2 (ALDH1A2) aldehyde dehydrogenase. Suppressing this enzyme has been proposed as a possible way to make a male contraceptive pill, because retinoic acid is necessary for spermatogenesis in humans much like in rats.[10]
On 4/6/2017 at 6:17 PM, Iamme. said:Hey,
Probably best that I check in as I think Im pretty much done with this page now.
To recap, I took accutane when I was 19, at the end of 2011 and after 3 months developed a variety of negative repercussions.
- Terrible stammer, forming sentences was nearly impossible, I remember thinking somedays, 'ok, today will be the day when I don't trip over my words at least 5 times, and that would rarely happen, I sounded stupid af.
- Short/long term memory loss. Remembering events from school and how to complete simple tasks was painful. I always lost my keys or found myself freezing on the spot, trying to remember what I was doing.
- 0 Libido. Chasing girls had no relevance to my life. While before accutane, being 18 and able to drink and party, this was all I was doing.
- Depression. everything sucked basically, not very attractive to friends let alone girls.
- Anxiety. Would start to feel cold around people, start shaking, I found it hard to have a smooth breathing pattern, always nervous sort of.
- ED.Possibly from the anxiety but even alone in my room I suffered. Mostly, and while it didnt happen often, in bed with a girl was impossible.
- Bleeding gums. At first all I had to do was suck on my gums and it was like turning on a tap. After a few years, only after brushing.
- Brain fog. Really confused trying simple tasks, people would say 'space cadet'.
- Chronic flatulence. Always, was weird.
- Eye floaters
- Apathy
- Dry skin
- Itchy scalp particularly
- Muscle aches
- Still had acne
- Insomnia for a few months
- Twitching muscles
There's probably a lot more things i've forgotten, but basically my life sucked.
Ive tried many things though. The biggest perhaps being:
-Nutritional balancing program for about a year.
-Saunas every day or thereabouts, mostly with coffee enemas while massaging my liver, again for about a year.
-Mannnny supplements, focus on anything to boost dopamine and serotonin.
-About 7 months of PMO reboot.
-Gym 5 days a week for 6 months.
-Had, like most hundreds of blood tests with little to no results.
-Did have low testosterone at the start, so took 2 shots for that.
-lots of other weird shit.______________________________________________________________________________________________________________________
Where Im at now:
I would say ive pretty much fully recovered. Mentally I am in a great place, there are no problems I have to deal with in terms of emotions, anxiety etc. I find it easy to learn (at uni) and am passionate about meeting new people, getting with girls, events, music, laughing etc. I have recovered from all the listed sides except eye floaters and dry skin, but that's really not a big deal. To be fair I got hit with mostly mental sides and so its understandable to be able to heal from those, but It wasnt easy, in fact my life was super shit for a good 4 years. I still have problems digesting fat though, but yeah more or less Im ok.
I hope others recover, its amazing how good life can be, and what opportunities and incredible moments present them self to you when your world isnt chaotic and you aren't suffering. I wont go on here, could get deep but nah.Hope this helps someone
it s the gym man. its totally high weight resistance training that heals us. im just positive. i am so mad both my shoulders tore so severely. i literally was almost completely healed between that no pmo cutting alcohol and dropping most supps and drugs, and then one day i picked up my backpack and noticed, wow, my shoulder is completely torn. now the other one too. i am positive accutane weakened my cartilage. multiple things in both shoulders are seriously torn and i have a to have arthroscopic surgery on one and possibly open on the other.
i am so damaged by accutane i cant do what it takes to get better.
https://www.ncbi.nlm.nih.gov/pubmed/24985041
"Systemic isotretinoin treatment seems to make cartilage thinner." ****.
6 hours ago, guitarman01 said:I think we just need to use discretion and common sense. Some of these are pretty cut and dry, like if you are tested for low testosterone then you might want to treat it. if you are diagnosed with hypo or hyperthyroidism then of course you treat it. even looking at these genetic mutations, its hard to say if they really mean anything. Some of these are pretty common in the general population.Whats most frustrating is all the people that complain about head pressure, inflammation, brain fog, (maybe we should call it memory loss) gum disease, tongue coating, breathing issues, eye sensitivity, hair loss, muscle weakness,depression,anxiety, thin skin,muscle twitching.
We got all this in common and still cant figure one thing out.
its like report your sides? well ive been trying. I still cant find one dr recognized, quantifiable thing wrong with me. So what sides? its all discretionary. Thats why id like to find something alot deeper then reporting sides. Id like to report a lawsuit. unfortunately now so much time has passed.i've had my vitamin a levels checked too. normal. I was wondering though would accutane or 13-cis retinoic acid look like normal vitamin a in the blood?
Im afraid unless you have bowel cancer from Accutane, a lawsuit isn't an option.
Lets face it, this drug has been on the market for 35 years by now, you and I know that to be wrong but any lawsuit to me is just laughable - the system is fucking screwed.....
It would actually be easier if your only issue was bowel cancer, unfortunately most of us fall into the bracket of having the 700 other adverse reactions that are either not serious enough or undetectable through all our testing....ahh the joy of it all.
On another note -With your balls full of synthetic retinoids, good luck starting a family!!
What a joke!!
1 hour ago, TrueJustice said:Im afraid unless you have bowel cancer from Accutane, a lawsuit isn't an option.Lets face it, this drug has been on the market for 35 years by now, you and I know that to be wrong but any lawsuit to me is just laughable - the system is fucking screwed.....
It would actually be easier if your only issue was bowel cancer, unfortunately most of us fall into the bracket of having the 700 other adverse reactions that are either not serious enough or undetectable through all our testing....ahh the joy of it all.
On another note -With your balls full of synthetic retinoids, good luck starting a family!!
What a joke!!
im about to have a son so i think our balls are just fine. Only took one try too =)
6 hours ago, TrueJustice said:Im afraid unless you have bowel cancer from Accutane, a lawsuit isn't an option.Lets face it, this drug has been on the market for 35 years by now, you and I know that to be wrong but any lawsuit to me is just laughable - the system is fucking screwed.....
It would actually be easier if your only issue was bowel cancer, unfortunately most of us fall into the bracket of having the 700 other adverse reactions that are either not serious enough or undetectable through all our testing....ahh the joy of it all.
On another note -With your balls full of synthetic retinoids, good luck starting a family!!
What a joke!!
Dude I get it's frustrating, but with all that negativity how do you expect to get any better? If you've given up, then fine.. leave the thread. But some of us are willing to get to the root of our OWN problems because clearly this drug messes with people in several different ways. People with your exact symptoms have been healed, and just because you haven't yet doesn't mean you have the right to flood everyone's minds with hopelessness. I'm not giving up. I have dreams, I have goals, I have hope. I suggest you find some as well. No matter how long you have been affected for, I believe everyone on this thread can find the key to their lock of problems.
Dont. Give. Up.
22 hours ago, Weltschmerz47 said:ive seen that too.. we definitely have an ongoing imbalance in our retinoids.. im sure there is a retinoic acid deficiency or insensitivity in like a lack of synthesis or something
If there was Im not sure what can be done about this. Myself and numerous people have tried vitamin a at different times with little success. Its also risky not fully knowing what might be going on to try to override this by supplementing vitamin a. I had a thought that maybe our body got acquainted to accutane's form of vitamin a, and started to reject normal vitamin a post treatment and that maybe low dose accutane would be worth looking into, but I dont really feel to good about that idea either.
Now im going to say something controversial. What if for some of us having taken Accutane just happen to be something we had in common? A coincidence.
let me give you a example. People are so obsessed with Accutane causing all their problems,(which i understand and is definitly the case for some people) that a statement like this just gets completely blown by and not realized.
On 1/30/2016 at 3:16 PM, yetanotheraccutanevictim said:Look into getting plasma methionine checked as well.I would also supplement phosphatidyl choline.
http://www.allergyresearchgroup.com/lipophos-edta-liposomal-phospholipids-60-ml-2-fl.-oz.High bilirubin = clogged liver
Oh, and I just got tested again for Lyme. I'm CDC positive.
Knowing what I know about Lyme, a diagnosis like this would supercede anything a person thought accutane was the cause of.
Multiple people that have passed through this forum have had the same thought with the same symptoms.
Im not talking about just dry skin.
Im talking about being a lyme carrier (unaffected at the time) who then took accutane.
Before you write it off I would just ask people that especially have neurological symptoms going on, do you live in a area or gone to where there could have been ticks?
its becoming a epidemic and 300,000 people are getting diagnosed in the US alone per year.
let me run down the symptoms real quick off the top of my head:
head fullness, pressure, facial muscle weakness
joint pain, nerve pain
fainting, shortness of breath, heart palpitations, chest pain
severe headaches and neck stiffness
spontaneous bone fractures
arthritis
shooting pains that may interfere with sleep
lightheadedness
muscle aches, twitching
memory loss
gum disease, gum loss, increased cavities, periodontal disease
cognitive impairment
heart related symptoms
gastrointestinal symptoms
neuropathy( nerve pain, numbness, hot/cold sensations, tingling)
Psychiatric(depression, mood changes)
thin skin
hair loss
eye floaters, light sensitivity
Now look at whats on this list.
Molecular features assigned putative chemical structures for the metabolic biosignature of Lyme disease [14]. The molecular features were assigned according to the number of chemical pathways related to each molecular feature. Data were extrapolated from the supplementary materials of the original study [14
On 4/15/2017 at 2:27 AM, guitarman01 said:Schalinske team studies retinoids, supplemental SAMe
Kevin Schalinskes life is about understanding pathways. If not for his research in methyl donors and a morning talk show about therapeutic retinoids, he would not be studying the effects of vitamin A and SAMe today. Everyone tries to discover their direction in life, and for the professor in food science and human nutrition, his path is tied to biochemical pathways.
My wife was watching a morning talk show, and one of the topics was about the increase of suicidal depression in patients taking accutane. In graduate school we demonstrated that retinoids, including accutane, decreased SAM levels in the liver, and SAMe was a noted antidepressant and approved for use in Europe for a number of years. The link between retinoids, SAMe and depression interested me. I decided that some day I would follow up with the information, said Schalinske.
Accutane, a therapeutic form of vitamin A, was developed to help patients with extreme cases of acne. However, side effects from prescribed vitamin A include neurological disorders such as depression, liver dysfunction, and birth defects. To optimize liver function and cognitive health, SAMe has been recently approved as an over-the-counter supplement in the United States.
For years Schalinske thought about the connection between the drugs - recently, Schalinskes path with retinoids and SAMe collided.
After I started working for Iowa State University my focus was methyl group metabolism and folate pathways, so the retinoid work got put on the back burner, until this opportunity came. It seemed like perfect timing and a natural extension to determine the extent SAMe can be used to treat vitamin A-caused depression and liver damage, Schalinske said.
Schalinske and his research team, Marian Kohut in kinesiology, Elizabeth Whitley in veterinary medicine, and masters candidate Anne Smazal, were given the chance to study retinoids and SAMe when they received seed grant money from the College of Human Sciences.
For Smazal, the project is an interesting study of when vitamin A becomes too much of a good thing. I am continually surprised by the many biochemical factors involved in maintaining a Eoegood mood. Its interesting to see how vitamin A, which we almost always consider to be a beneficial substance, can be very toxic at extremely high doses, Smazal said.
Their project has two main components. The first is to gain understanding on how retinoids cause adverse side affects in the liver and surrounding tissue, and disrupt neurotransmitters in the brain of rats given doses of vitamin A. The second goal is to test their hypothesis that the over-the-counter supplement SAMe can be effective in curbing the side effects of vitamin A.
I hope our hypothesis is right. Our research is not focused on humans as our model, because of the extensive nature of our analysis. We are simply trying to understand the pathways retinoids impact in the liver and brain. In the future, this study could be translated to humans, but our pathways are not so simple. Things like hormones, lack of vitamin B12, or diabetes impact biochemical pathways. This is the first phase. Right now, we hope to gain an understanding of retinoids, depression, and SAMe, to get published, and contribute to the literature base to tell a stronger story, Schalinske said.
As the project continues, Schalinskes interest in retinoids, SAMe, and biochemical pathways influence the next generation of medical researchers. Smazal plans to attend medical school after graduating.
Dr. Schalinskes past research in methyl group metabolism helps me understand the bigger picture of biochemical pathways as they relate to human health. He challenges me to look at data in a way that I havent previously considered, which always helps reveal patterns and trends in our findings, Smazal said.
The above is the pre-text to this study which was conduced the following year (2013);
http://lib.dr.iastate.edu/cgi/viewcontent.cgi?article=4063&context=etd
QuoteSAM supplementation may be an effective therapy for both the mitigation of retinoic acid-related side effects and the prevention or treatment of major depressive disorder
It's been posted a couple of times, and is what led me to try SAMe initially, although I wasn't taking any of the required co-factors needed to maintain an effective methyl group metabolism so it was obviously a waste of time, but I've recently got SAMe again, and will be taking it alongside the suggested co-factors this time.
One massive issue with this thread is people will take a supplement with no co-factors, and not in the required dose (Im as guilty as anyone in this respect), and then post on here to proclaim that 'supplement x doesnt work' etc. HoweverI really think one of the best hopes is a methylation protocol including all the sups such as active B-vits, folate, SAMe - it's just very difficult to get methylation protocols right as it requires so much trial and error.
On 4/13/2017 at 10:52 PM, Justmom said:So here's a tidbit of info that might be useful to some. I've been doing some research on RSO, and it seems if you take it by suppository, you do not get high. Bad thing about that, though, is with that delivery it is not processed through the liver, so would not do any healing there.
Well, please disregard this earlier comment. On researching it further, the doctor who originally recommended it now feels that the reason you don't get high is because so very little of it is absorbed. So in general, RSO by suppository is a waste of money, time, and effort.
4 hours ago, tanedout said:One massive issue with this thread is people will take a supplement with no co-factors, and not in the required dose (Im as guilty as anyone in this respect), and then post on here to proclaim that 'supplement x doesnt work' etc. HoweverI really think one of the best hopes is a methylation protocol including all the sups such as active B-vits, folate, SAMe - it's just very difficult to get methylation protocols right as it requires so much trial and error.
The one takeaway I have based on what I previously posted, is whether you have a issue processing sulfur, cbs mutations, mthfr mutations, issues with b vitamins, folate metabolism,methionine metabolism, all having to do with the methylation pathway, is that the main medically viable way to treat these defects all revolves around the supplement TMG. For each of these disorders. The dosage recommended by the prescription used to treat these disorders is 6 grams per day, 3 grams twice daily. Is TMG new news? no. Is this a higher dosage then previously trialed? Maybe. I dont remember for sure, and this is mainly if any of these defects lead to elevated homocysteine levels. Maybe it would still have a therapeutic benefit though.
1 hour ago, guitarman01 said:The one takeaway I have based on what I previously posted, is whether you have a issue processing sulfur, cbs mutations, mthfr mutations, issues with b vitamins, folate metabolism,methionine metabolism, all having to do with the methylation pathway, is that the main medically viable way to treat these defects all revolves around the supplement TMG. For each of these disorders. The dosage recommended by the prescription used to treat these disorders is 6 grams per day, 3 grams twice daily. Is TMG new news? no. Is this a higher dosage then previously trialed? Maybe. I dont remember for sure, and this is mainly if any of these defects lead to elevated homocysteine levels. Maybe it would still have a therapeutic benefit though.
With the whole methylation process, surely there's a clinic or therapist of some sort who could help people out??
It sounds like there's enough people around the world who have this problem - I'd rather work with someone who can steer you through the process and avoid all this trial and error bullshit that plagues us Accutane victims.
I get that everyone is different but some basic building blocks would surely help eliminate some frustration we all seem to be having in regard to what should be taken, how much and how bloody often etc etc.....
Anyway, I might see if a naturopath can help me out - that sounds like a good place to start.
19 hours ago, tanedout said:HoweverI really think one of the best hopes is a methylation protocol including all the sups such as active B-vits, folate, SAMe - it's just very difficult to get methylation protocols right as it requires so much trial and error.
Do you recall anyone getting b12 shots that's posted on this thread?
On 4/14/2017 at 10:00 AM, mariovitali said:Anyone interested can send me raw 23andme data to [email protected].
So far, all is good in the sense that whatever data i got from Post-Accutane sufferers have the SNPs i expected them to have. I do have few samples though so this is a problem.
Regarding Methylation, it is an issue as well. I do take Metafolin 400 mcg per day and P5P 50 mg every other day based on my SNPs. Sometimes i might take Dibencozide and FMN (once a week).
Is there more complete DNA testing available to the consumer other then 23andme? what about ancestry or family tree? I ask because im trying to look up snps based on the GNMT gene and it looks like 23andme might be missing some data? I check snpedia and it mentions a certain SNP is on Ancestry v2? here is a example. I want to look into this but is 23andme just missing this information/didnt test this SNP?
anyone can feel free to answer.
https://www.snpedia.com/index.php/Rs121907888
rs121907888
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (T;T) | 0 | common in clinvar |
| Makers121907888(C;C) |
| Makers121907888(C;T) |
| Reference | GRCh3838.1/141 |
| Chromosome | 6 |
| Position | 42960916 |
| Gene | GNMT |
| is a | snp |
| is | mentioned by |
| dbSNP | rs121907888 |
| ClinGen | rs121907888 |
| ebi | rs121907888 |
| HLI | rs121907888 |
| Exac | rs121907888 |
| Varsome | rs121907888 |
| Map | rs121907888 |
| PheGenI | rs121907888 |
| hapmap | rs121907888 |
| 1000 genomes | rs121907888 |
| hgdp | rs121907888 |
| ensembl | rs121907888 |
| gopubmed | rs121907888 |
| geneview | rs121907888 |
| scholar | rs121907888 |
| rs121907888 | |
| pharmgkb | rs121907888 |
| gwascentral | rs121907888 |
| openSNP | rs121907888 |
| 23andMe | rs121907888 |
| 23andMe all | rs121907888 |
| SNP Nexus | |
| SNPshot | rs121907888 |
| SNPdbe | rs121907888 |
| MSV3d | rs121907888 |
| GWAS Ctlg | rs121907888 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs121907888(C;C) |
| Alt | rs121907888(C;C) |
| Reference | Rs121907888(T;T) |
| Significance | Pathogenic |
| Disease | Glycine N-methyltransferase deficiency |
| Variation | info |
| Gene | CNPY3-GNMTGNMT |
| CLNDBN | Glycine N-methyltransferase deficiency |
| Reversed | 0 |
| HGVS | NC_000006.11:g.42928654T>C |
| CLNSRC | OMIM Allelic VariantUniProtKB (protein) |
| CLNACC | RCV000004386.3, |
On 4/16/2017 at 0:38 AM, Colinboko said:Dude I get it's frustrating, but with all that negativity how do you expect to get any better? If you've given up, then fine.. leave the thread. But some of us are willing to get to the root of our OWN problems because clearly this drug messes with people in several different ways. People with your exact symptoms have been healed, and just because you haven't yet doesn't mean you have the right to flood everyone's minds with hopelessness. I'm not giving up. I have dreams, I have goals, I have hope. I suggest you find some as well. No matter how long you have been affected for, I believe everyone on this thread can find the key to their lock of problems.Dont. Give. Up.
We're all allowed to vent once and a while, especially if you are a veteran member.
3 hours ago, guitarman01 said:23 hours ago, tanedout said:HoweverI really think one of the best hopes is a methylation protocol including all the sups such as active B-vits, folate, SAMe - it's just very difficult to get methylation protocols right as it requires so much trial and error.
Do you recall anyone getting b12 shots that's posted on this thread?
No pretty sure I've not read anyone whose tried that. Could be worth a try as part of B12 therapy including the other B vits. I've been taking a B12 both as part of a multi active B-vit daily for about a year, and some additional MB12. AB12 makes me fatigued.
23andme is a cut-down DNA profile, it's not the complete map. I believe that is possible, but I would imagine it would be at a high cost, and I'm not really sure how useful the additional data would be.
Really I'm surprised that study above regarding specifically talking about "SAM supplementation may be an effective therapy for both the mitigation of retinoic acid-related side effects" surely everyone should be all over that?!!
2 hours ago, tanedout said:23andme is a cut-down DNA profile, it's not the complete map. I believe that is possible, but I would imagine it would be at a high cost, and I'm not really sure how useful the additional data would be.
I am realizing a picture here that could point to cardiovascular issues, starting with the blood vessels.(im thinking restricted blood flow,narrowing of arteries, connective tissue)
Remember this?
http://forums.phoenixrising.me/index.php?threads/accutane-methylation-block-and-glycine-n-methyltransferase.26042/
Accutane, Methylation Block and Glycine N-Methyltransferase
I want to be able to look at each and every snp having to due with the GNMT gene to see if their are any mutations. Same with a few other genes.
lets say accutane was capable of mutating the GNMT gene in certain susceptible individuals. Couple this with already inherited mutations at the CBS,MTHFR this could be bad and this could theoretically double your risk for the health related issues these gene mutations are capable of causing.
oh and I was just reading my bottle of TMG: Betaine anhydrous, or TMG is known to facilitate methylation processes. Methylation is a normal biological process that is critical for DNA repair, liver detoxification mechanisms, lipid metabolism, and the production of SAM-E
TMG (Trimethylglycine) has been shown to be a safe and effective methyl donor for the facilitation of methylation processes.
I want to prefacethis is just another thought, but worth following up on if possible.
3 hours ago, macleod said:We're all allowed to vent once and a while, especially if you are a veteran member.
Vent elsewhere. This should be a thread that shines light on a dark situation and gives people strength to keep fighting.
For as long as Accutane is still on the market of course there's going to be venting. Whilst certain doctors continue to be ignorant there will be venting - that's to be expected I would of thought and is in no way a personal attack on anybody here!!
On the other hand, hanging shit on each other via forum is not on, I'm not into that and nor for the most part is anybody else....may that continue.
Its all good, I got certain things off my chest, mix the good with the bad, long term sufferers understand....