Acne.org Products
On 4/11/2017 at 0:08 PM, cnb30 said:I did report to the company website, and I've discussed the issue with a couple doctors where else should i report? The FDA?
YES!!
Here is a link to file an adverse event report with the FDA:
https://www.accessdata.fda.gov/scripts/medwatch/index.cfm?action=reporting.home
The doctors you have mentioned this to are under no obligation to report your side effects, and most likely the company did not pass the info to the FDA. Generic manufacturers (all manufacturers of oral Isotretinoin in the US) are totally unaccountable.
Roche was already busted for failing to notify the FDA of ~150 ADR reports involving male fertility. Even still, I am unsure if those 150 reports were ever recorded in the FDA database after the fact.
So I'm now a little bit more than a month into my testosterone blast figured I'll give a small update on how I'm feeling on 500mg/week test e. I still don't have my e2 dialed in correctly so some of my side effects may change once I've got that figured out.
Depression is minimal at this dose, I still can get sad, but everyone does, it's not the sadness that I used to get, where I'd spiral down a hole of negativity. That's probably why I don't visit this thread that much anymore, I'm feeling pretty good in general. I'm curious if the guys on TRT dose are the same way or if that's only at super physiological doses.
Brain fog, somewhat lifted, probably due to depression being lifted, I don't feel normal as in pre-accutane, but feel pretty good in general.
ED, erections weren't really affected post accutane for me, but after I nuked e2 on purpose, then a couple times on accident while on T, that tanked, now that I've sorta got e2 dialed in and stable, erections are certainly much much "girthier".
Sex drive, not affected at all by test or HCG(even tried 2000UI out of curiosity), I've been taking 100mg pregnenolone for I think a little more than a week and sex drive has certainly gone up, I actually want to have sex now, going to keep this up, and may try 300-500mg for a couple weeks to see what that does.
Sleep/energy is much better and I'm able to function on 4 hours of sleep as long as my e2 isn't too high(still not dialed in).
Joints are much more cushioned, but pain isn't totally gone, probably due to the damage done over time.
Getting a pretty good amount of acne again, not as much as some of the other roiders (woo accutane) and also bloating a pretty good amount (pretty standard on test)
Obviously I'm doing this for the bodybuilding gains, but I'm super curious where my body will be after my cycle finishing PCT.
2 hours ago, ehohel said:So I'm now a little bit more than a month into my testosterone blast figured I'll give a small update on how I'm feeling on 500mg/week test e. I still don't have my e2 dialed in correctly so some of my side effects may change once I've got that figured out.
Depression is minimal at this dose, I still can get sad, but everyone does, it's not the sadness that I used to get, where I'd spiral down a hole of negativity. That's probably why I don't visit this thread that much anymore, I'm feeling pretty good in general. I'm curious if the guys on TRT dose are the same way or if that's only at super physiological doses.
Brain fog, somewhat lifted, probably due to depression being lifted, I don't feel normal as in pre-accutane, but feel pretty good in general.
ED, erections weren't really affected post accutane for me, but after I nuked e2 on purpose, then a couple times on accident while on T, that tanked, now that I've sorta got e2 dialed in and stable, erections are certainly much much "girthier".
Sex drive, not affected at all by test or HCG(even tried 2000UI out of curiosity), I've been taking 100mg pregnenolone for I think a little more than a week and sex drive has certainly gone up, I actually want to have sex now, going to keep this up, and may try 300-500mg for a couple weeks to see what that does.
Sleep/energy is much better and I'm able to function on 4 hours of sleep as long as my e2 isn't too high(still not dialed in).
Joints are much more cushioned, but pain isn't totally gone, probably due to the damage done over time.
Getting a pretty good amount of acne again, not as much as some of the other roiders (woo accutane) and also bloating a pretty good amount (pretty standard on test)
Obviously I'm doing this for the bodybuilding gains, but I'm super curious where my body will be after my cycle finishing PCT.
Fantastic news!
1 minute ago, mikez said:I had them tested...came back normal.
hi Mikez,
Thank you for the input. I would be curious as to what the vitamin a levels are after we eat butter, carrots, etc.
Obviously, they would be elevated but there has to be an upper threshold. The body should use what it needs and store or excrete the rest. I wonder if we have a problem with all 3 but we get sides/toxicity from eating vitamin a foods because our bodies cant process it right.
It would be easy to test, establish a baseline like you did the eat some butter and retest to see whats happening.
This is the same as measuring post-prandial glucose. Glucose goes up after you eat but if its above 150/200, cant remember, then you're probably at risk for diabeetus.
I have been away as i am swamped from working 14 hours a day. There are more things that came up i just have to properly sit down and write up the theory in one single post.
Hopefully in the next 10 days or so i will make it and let you Guys know. In the meantime if you can send me raw data from 23andme you will help tremendously.
2 hours ago, MonsterDiesel said:hi Mikez,Thank you for the input. I would be curious as to what the vitamin a levels are after we eat butter, carrots, etc.
Obviously, they would be elevated but there has to be an upper threshold. The body should use what it needs and store or excrete the rest. I wonder if we have a problem with all 3 but we get sides/toxicity from eating vitamin a foods because our bodies cant process it right.
It would be easy to test, establish a baseline like you did the eat some butter and retest to see whats happening.
This is the same as measuring post-prandial glucose. Glucose goes up after you eat but if its above 150/200, cant remember, then you're probably at risk for diabeetus.
Would a test like that work with Vit A? Glucose can rise and fall rapidly, where as Vit A, being fat soluble, has a much longer half life and also wider distribution in tissues. To err on caution, I try to limit Retinol intake (ie use low fat dairy , use butter sparingly, and fewer egg yolks than before). I still have an average amount, just don't go overboard.
I do this because I tried a Vit A supplement a few years back as part of my never ending trial of meds/supps, and it made me ill for a few weeks. Everyone is different though.
38 minutes ago, mikez said:Would a test like that work with Vit A? Glucose can rise and fall rapidly, where as Vit A, being fat soluble, has a much longer half life and also wider distribution in tissues. To err on caution, I try to limit Retinol intake (ie use low fat dairy , use butter sparingly, and fewer egg yolks than before). I still have an average amount, just don't go overboard.
I do this because I tried a Vit A supplement a few years back as part of my never ending trial of meds/supps, and it made me ill for a few weeks. Everyone is different though.
The short answer to that is I don't know. There has to be information out there on the pharmacodynamics of ingested retinol and we can use that to figure this out.
It probably wont make a difference but i'd love to know the mechanism of we cant tolerate vitamin A anymore.
I was also thinking on including a question on serum levels into our survey efforts. Im only brainstorming right now as ive been busy with work but i'll try to put something together, soon.
Mikez, maybe you're interested in collaborating?
On 4/11/2017 at 10:08 PM, mikez said:I had an MRI, and it came up normal. Due to my headaches, Ive always wanted an MRA though. How did you convince them ? But now they know the contrast agent in MRA, gadolinium , leaves metal deposits for decades in the brain, Im not so sure I want one..
I convinced my neurologist of a mra because doctors are starting to see ive had more test then anyone they've seen for my age. I also have decreased brain volume.Mild but Advanced for my age. I read on the MRA. seems very safe, unless you have serious kidney issues, then you could have a problem with the contrast.
On 4/6/2017 at 6:17 PM, Iamme. said:Twitching muscles
This is one of the most concerning symptoms that ive seen multiple people have in common. This could mean some kind of neurological involvement going on.
8 hours ago, MonsterDiesel said:It probably wont make a difference but i'd love to know the mechanism of we cant tolerate vitamin A anymore.
its not just vitamin a though. From a to zinc, people have had issues/reactions with many different supplements or types of food. its not a vitamin a exclusive thing.
9 hours ago, mariovitali said:@tanedoutI have been away as i am swamped from working 14 hours a day. There are more things that came up i just have to properly sit down and write up the theory in one single post.
Hopefully in the next 10 days or so i will make it and let you Guys know. In the meantime if you can send me raw data from 23andme you will help tremendously.
Have you seen anything in common with methylation issues? particular with b12 and folate? Also what is the easiest way for people to send you their raw data? being that you can only attach picture files.
Here is a example of how the wrong combination of supplements( or depending on what we got going on) could be very, very bad.
Effects of Carnosine and Anserine on the Destruction of Vitamin B12 with Vitamin C in the Presence of Copper.
Abstract
Vitamin B12 is destroyed by the addition of substantial amounts of vitamin C in the presence of copper. Effects of carnosine and anserine, natural water-soluble antioxidants, on the destruction of vitamin B12, were studied. Addition of carnosine (l0mM) effectively repressed the destruction of vitamin B12, but anserine had only weak inhibitory effects.
2 hours ago, guitarman01 said:This is one of the most concerning symptoms that ive seen multiple people have in common. This could mean some kind of neurological involvement going on. its not just vitamin a though. From a to zinc, people have had issues/reactions with many different supplements or types of food. its not a vitamin a exclusive thing. Have you seen anything in common with methylation issues? particular with b12 and folate? Also what is the easiest way for people to send you their raw data? being that you can only attach picture files.
Muscle twitching is a common side effect in hypothyroidism and adrenal fatigue....
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.
8 hours ago, guitarman01 said:On 12/04/2017 at 1:08 PM, mikez said:I had an MRI, and it came up normal. Due to my headaches, Ive always wanted an MRA though. How did you convince them ? But now they know the contrast agent in MRA, gadolinium , leaves metal deposits for decades in the brain, Im not so sure I want one..
I convinced my neurologist of a mra because doctors are starting to see ive had more test then anyone they've seen for my age. I also have decreased brain volume.Mild but Advanced for my age. I read on the MRA. seems very safe, unless you have serious kidney issues, then you could have a problem with the contrast.
So your MRIs were abnormal and indicated further exploration from doc , or you convinced them to do it? I dunno, ' probably safe' is what the experts told us about Accutane.
" Because gadolinium-based contrast agents pass the blood“brain barrier and of each bolus dose at least 1% of the gadolinium is retained and assumed to be in its free toxic state; these products need further study "
"Gadolinium has been found to remain in the body after multiple MRIs, even after a prolonged period of time. Although gadolinium contrast agents have not been found to be harmful to the body, it is unknown whether these deposits can lead to adverse health effects. The FDA has asked doctors to limit the use of Gadolinium contrast agents to times when necessary information is made available through its use."
EMA (European version of FDA) now wants it banned.
If you urgently require an MRA in an acute medical setting , of course benefits outweigh any potential or theoretical issues, but for us it's more of a 'Ill get it because I've done all the other tests' kind of scenario..
But I hope it goes well and keep us posted. 
On 4/14/2017 at 6:52 AM, guitarman01 said:This is one of the most concerning symptoms that ive seen multiple people have in common. This could mean some kind of neurological involvement going on. its not just vitamin a though. From a to zinc, people have had issues/reactions with many different supplements or types of food. its not a vitamin a exclusive thing. Have you seen anything in common with methylation issues? particular with b12 and folate? Also what is the easiest way for people to send you their raw data? being that you can only attach picture files.
Anyone interested can send me raw 23andme data to [removed].
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).
Regarding Accutane, this might be of interest (sorry if this is a repost) :
QuoteThe data showed that all-trans RA has a profound effect in regulating genes involved in synthesis and transport of bile acids. All-trans RA treatment reduced the gene expression levels of Cyp7a1, Cyp8b1, and Akr1d1, which are involved in bile acid synthesis
https://www.ncbi.nlm.nih.gov/pubmed/25175738
Of course i am not suggesting that Isotretinoin is able to have the same effect as ATRA, this is a question for the experts.
10 hours ago, mikez said:So your MRIs were abnormal and indicated further exploration from doc , or you convinced them to do it?
i had a initial mri in 2013, nothing was abnormal. I had one recently in march, here is the full report. the radiologist flagged something this time. my neurologist confirmed with another neurologist that they dont seem to think it is related to my symptoms, and that this condition was already going on in 2013(even though it wasnt flagged then) and is stable, hasnt advanced. I mentioned to him about blood flow in the brain or any signs of vasculitis, or inflammation of the blood vessels. hes about done with me and recommends me to a university for a second opinion. I dont believe the mra is in relation to findings on the mri. he wouldnt have automatically recommended it as follow up, its more so based on my described symptoms and concern.
Impression
1. No acute intracranial findings noted.
2. Volume loss of brain parenchyma is seen, advanced for patient's
age. No intracranial mass lesion or mass effect or midline shift
noted.
Narrative
PROCEDURE: MRI BRAIN WO IV CONTRAST
REASON FOR EXAM: Headache
COMPARISON: CT head, 9/10/2016; MRI head, 8/10/2013
TECHNIQUE: Multiplanar multisequence imaging of the head was performed
without intravenous contrast.
FINDINGS:
There is no restricted diffusion or acute infarct noted. No other
acute intracranial findings are seen. Gradient-echo imaging reveals no
intracranial hemorrhage or blood products.
There is no focal parenchymal edema or mass lesion or mass effect or
midline shift or extra-axial fluid collection noted. There is mild
volume loss of brain parenchyma, advanced for patient's age. No focal
parenchymal signal abnormality identified.
Pituitary gland is within normal limits. Posterior fossa structures
are within normal limits. There is thinning of the body of the corpus
callosum. This finding is stable compared to prior MRI, 8/10/2013.
Paranasal sinuses and mastoid air cells are clear. Orbits are within
normal limits.
regardless of what their blood test show, Has anyone done a round of b12 shots per protocol like they were treating a b12 deficiency? For example standard practice from mayo clinics website would be 1000 mcg injected everyday for 10 days, then once a week, then once a month. (You'd probably start to feel better in a couple weeks,if depleted)
I was reading a study where oral b12 wasnt able to restore depleted spinal fluid levels, only the injection was.
Can someone please, please help me. I am so cared and confused right now. Please tell me I haven't ruined my health and body forever.
I have been on accutane since July 18th - 9 months now. For the first month I was on 20mg a day; the second month, 40mg; and for the remaining 7 I have been on 70mg per month. I am 19 years old (18 at the time of starting) and weigh 75KG.
I am petrified. Apparently I have way exceeded the dose according to other members on here.
I have only ever followed what has been prescribed to me. I saw a different derm last time round and he prescribed three months up front and seemed very unsure about what he was doing.
I am so scared.
Does anyone have any answers? When should I have stopped, according to a culmintative dose? What dose am I currently on? I have no idea how to work any of this out.
55 minutes ago, OllieWickens said:Can someone please, please help me. I am so cared and confused right now. Please tell me I haven't ruined my health and body forever.
I have been on accutane since July 18th - 9 months now. For the first month I was on 20mg a day; the second month, 40mg; and for the remaining 7 I have been on 70mg per month. I am 19 years old (18 at the time of starting) and weigh 75KG.
I am petrified. Apparently I have way exceeded the dose according to other members on here.
I have only ever followed what has been prescribed to me. I saw a different derm last time round and he prescribed three months up front and seemed very unsure about what he was doing.
I am so scared.
Does anyone have any answers? When should I have stopped, according to a culmintative dose? What dose am I currently on? I have no idea how to work any of this out.
55 minutes ago, OllieWickens said:Can someone please, please help me. I am so cared and confused right now. Please tell me I haven't ruined my health and body forever.
I have been on accutane since July 18th - 9 months now. For the first month I was on 20mg a day; the second month, 40mg; and for the remaining 7 I have been on 70mg per month. I am 19 years old (18 at the time of starting) and weigh 75KG.
I am petrified. Apparently I have way exceeded the dose according to other members on here.
I have only ever followed what has been prescribed to me. I saw a different derm last time round and he prescribed three months up front and seemed very unsure about what he was doing.
I am so scared.
Does anyone have any answers? When should I have stopped, according to a culmintative dose? What dose am I currently on? I have no idea how to work any of this out.
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.
On 4/12/2017 at 4:30 PM, ACCUiTy_drANE said:Sorry for the interruption but. . . Can anyone comment on SAM-e?
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.
https://rarediseases.info.nih.gov/diseases/2734/homocystinuria-due-to-mthfr-deficiency
this can also happen in the brain. not sure if serum test would detect this? Urine test?
Homocystinuria due to MTHFR deficiency
Summary
Homocystinuria due to MTHFR deficiency refers to a metabolic condition caused by rare MTHFR genemutations that result in severe homocystinuria, abnormal clotting, developmental delay, seizures, intellectual disability, and microcephaly.[1] It is inherited in an autosomal recessive fashion.
For more information on common MTHFR gene mutations (such as C677T) visit our page: MTHFR gene mutation
Symptoms
For information on signs and symptoms reported in association with common MTHFR gene mutations, such as C677T, please visit our MTHFR Gene Mutation resource page.
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) |
| Autosomal recessive inheritance | - |
| Behavioral abnormality | - |
| Gait disturbance | - |
| Homocystinuria | - |
| Hyperhomocystinemia | - |
| Incoordination | - |
| Microcephaly | - |
| Paresthesia | - |
| Seizures | - |
| Stroke | - |
Cause
Inheritance
For more information on the inheritance of common MTHFR gene mutations (such as C677T) visit our page: MTHFR gene mutation
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.
Treatment
Management Guidelines
- The NORD Physician Guide for Homocystinuria due to MTHFR 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.
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
Read this. It says having two heterozygous mutations at c677t and a1298c could be just as bad as homozygous for c677t(which is normally only 5 percent of the population?) I have the two different mutations.
This could literally be a blood flow issue.
did accutane cause this? might look into testing my parents genes.
Methylenetetrahydrofolate Reductase (MTHFR) Thermolabile Variant, DNA Analysis
Test Details
Synonyms
- Hyperhomocysteinemia, C677T and A1298C Mutations
- MTHFR
Use
Follow-up evaluation in individuals with hyperhomocysteinemia; evaluation of patients with venous thrombosis
Limitations
This assay detects only the C677T and A1298C mutations in the MTHFR gene. The diagnosis of hyperhomocysteinemia cannot rely on DNA testing alone but should take into consideration clinical findings and other studies, such as serum homocysteine levels. Prenatal testing is not available.
Methodology
Polymerase chain reaction (PCR) and restriction enzyme analysis
Additional Information
Hyperhomocysteinemia (high blood levels of homocysteine) is a risk factor for cerebrovascular disease, cerebral vein thrombosis, coronary artery disease, myocardial infarction, and venous thrombosis. The levels of homocysteine in the serum are influenced by both genetic and environmental factors. One of the genetic factors involves point mutations in the methylenetetrahydrofolate reductase (MTHFR) gene (OMIM 607093). Thermolabile variants of the MTHFR enzyme are mildly deficient at reducing 5,10-methylenetetrahydrofolate to 5-methylenetetrahydrofolate, a cofactor in the remethylation of homocysteine to methionine. The result is an elevation of serum homocysteine levels, especially in individuals with insufficient folate. One mutation, C677T, results in the MTHFR enzyme being 20% less efficient in metabolizing homocysteine, thus increasing serum levels, especially when plasma folate levels are at the lower end of normal. Five percent of Caucasians and 1.4% of African-Americans are C677T homozygotes, and are likely to have elevated serum homocysteine levels. A second mutation, A1298C, is also relatively common. Data suggests that combined heterozygosity for the two mutations may result in features similar to those of C677T homozygotes. Neither heterozygosity nor homozygosity for A1298C has been shown to be a risk factor for hyperhomocysteinemia. In patients with hyperhomocysteinemia, follow-up testing for the MTHFR mutation might be warranted to rule it out as a causative.
my mthfr
| MTHFR C677T | rs1801133 | AG | +/- |
| MTHFR 03 P39P | rs2066470 | GG | -/- |
| MTHFR A1298C | rs1801131 | GT | +/- |
Then again. Not everybody has this in common do they
Homocystinuria caused byCBS deficiency
Homocystinuria caused bycystathionine beta-synthase (CBS) deficiencyis also called classical homocystinuria. CBS is an enzyme. Enzymes are proteins that regulate the bodys tissues and organs. Specifically, CBS helps convert an important amino acidhomocysteineto another amino acid that the body needs. When the body does not produce enough CBS, levels of homocysteine and methionine (also an important amino acid) in the blood increase. The high levels of homocysteine cause harmful symptoms to develop.
CBS deficiency is divided into 2 subgroups:
- People who respond to vitamin B6 (pyridoxine)
- People who do not respond to vitamin B6. These people may have more severe symptoms.
Homocystinuria caused byMTHFR deficiency
Homocystinuria caused by5,10-methylenetetrahydrofolate reductase (MTHFR) deficiencyis very rare. MTHFR is an enzyme. Enzymes are proteins that regulate the bodys tissues and organs. Specifically, MTHFR helps convert an important amino acidhomocysteineback to methionine, another important amino acid. When the body does not produce enough MTHFR, blood levels of homocysteine increase and blood levels of methionine decrease. This causes harmful symptoms to develop.
Homocystinuria caused bycbl defects
Homocystinuria caused bycobalamin cofactor metabolism (cbl) defectsoccurs when the body cannot properly process cobalamin (vitamin B12). This activity is essential for converting an important amino acidhomocysteineback to methionine, another important amino acid. When the body cannot process vitamin B12 as it should, blood levels of homocysteine increase, and blood levels of methionine decrease. This causes harmful symptoms to develop.
The body goes through a series of steps to process vitamin B12. Errors can occur in each of these steps. This leads to many types of cbl defects that cause homocystinuria: cblC, cblD, cblE, cblF, cblG, cblJ, and cblX.
By far the most common and best understood type of cbl defects iscblC defect. CblC defect causes two disorders:homocystinuriaandmethylmalonic acidemia (MMA). MMA causes methylmalonic acid to build up in the blood. The body makes tiny amounts of methylmalonic acid when digesting protein. But a high level of methylmalonic acid in the blood can also cause harmful symptoms to develop. CblD, cblF, cblJ, and cblX defects also cause both homocystinuria and MMA.
anyone had a plasma methionine test?
Monitoring: Monitor plasma methionine concentrations in patients with CBS deficiency. Keep plasma methionine concentrations below 1,000 mol/L through dietary modification