kim

Cheri, As I have mentioned before, my guys are both tall too. From Chiro xrays, no curvature of spine or other skelatal problems either. I think the last thing anyone wants to do is to try to fit everyone in any particular "box." From reading Yasko and other forums, the possibility of genetic combo's, regulating proteins/enzymes etc. is SO vast. I do find the things discussed here to quite interesting though. No matter the stage of development or age is there a clue here? Could a high level of hydroxyproline suggest collagen production or something "off" with connective tissue?

Ifran, Were the taurine levels slightly out of range or really high? The hydroxyproline level is interesting. Here is some info on a couple of other threads that talk about connective tissue or excessive collagen. Thread title "Cheri Glaucoma" Cheri Glaucoma http://www.latitudes.org/forums/index.php?...c=3400&st=0 http://en.wikipedia.org/wiki/Connective_tissue Collagen is the main protein of connective tissue in animals and the most abundant protein in mammals, making up about 25% of the total protein content http://www.latitudes.org/forums/index.php?...c=3410&st=0 http://www.wecare4lungs.com/pe.htm What is Pectus Excavatum? QUOTE A pectus excavatum may be caused by an excessive overgrowth of costal (rib) cartilage, low bone densities, poor nutrition and muscle imbalances. It is found more often in boys then girls. Pectus excavatum becomes more noticeable once the child enters periods of rapid growth such as during early adolescence. It is not uncommon for a child with a pectus excavatum to also have curvature of the spine (scoliosis), a hunched over posture (kyphosis) or Vitamin D deficiency (rickets). and QUOTE Pectus excavatum is the medical term for an abnormality of the rib cage that results in a caved-in or sunken appearance of the chest. This condition, which is present at birth (congenital), is due to abnormal growth of the connective tissue joining the ribs to the breastbone (sternum). Usually, the abnormality is mild and needs no treatment. http://www.aro.org/archives/2003/2003_1813.html There are numerous potential applications for tissue-engineered cartilage in head and neck reconstruction. These applications include laryngotracheal reconstruction, microtia repair, auricular reconstruction, and repair of septal defects. In order to characterize the differentiation of tissue-engineered constructs, a basic understanding of the collagen composition of different human cartilage subtypes is required. Cartilage tissue can be divided into three general classes or types: hyaline, elastic, and fibrocartilage. In order to more precisely characterize these subtypes, immunohistochemistry with antibodies to elastin and to collagen types I, II, V, VI, X was performed.

Andy, Here is a partial list from the Yasko forum. I left the CBS info attached, as there is concern over supplementing sulfur donors with certain genetics. I have read a couple of posts that have said, while their child tested for positive for CBS mutations, they still did well with sulfur donors. Also, for my boys I feel one of the things that are going to be essential is keeping an eye on ammonia levels, going forward. Protein...eggs and othe sulfur sources may contribute to rising ammonia levels. This is just my limited understanding. Hope you will comment if you have thoughts. One other question Andy. What do you think about having gentic testing? Do you see a day where you could be forced to provide that info to insurers? I'm leary of that. SULFUR DONORS: ( avoid if cbs+, no extra than what is in the HHC multi) taurine broccoli garlic glutathione NAC SAMe magnesium sulfate cream glucosamine sulfate chondroitin sulfate MSM ALA milk thistle Beyond C DMPS DMSA Heparin AMMONIA PROVOKERS: (Issues for CBS +) protein B6 glutathione taurine NAC AMMONIA PROVOKERS: (Issues for CBS +) protein B6 glutathione taurine NAC LIPID DONORS: (limit for CBS+, NOS+) Immune Factors Any transdermal creams Lipoceutical EDTA and Lipoceutical glutathione High doses of EFA CoQ10 ALA Idebenone

gfam, I'm wondering if you have seen any increase in problems with the use of Nasocort? gfam, I haven't read this whole thread and I'm sure you have gotten some great advice, but from what you describe I would go to that first Dr. appt with a specific wish list of tests. Personally, I would want levels of B 12 tested, amino acids (dr will probably balk at that one..since I don't think the majority know a lot about what to do about the results). Zinc and copper levels (i'll add here if I think of more). This is something that we did, that I found helpful. We went to a Ped allergy specialist (DO). He wrote a list of testst that he wanted the Ped to order. Once there was another Dr. involved, it seemed the Ped felt comfortable ordering the tests like thyroid, ammonia levels, etc. That way insurance covered it. The test results were forwarded to the "referral Dr." I think once a Ped orders testing, they are creating liability for themselves with having to know how to treat/interpret the results. I don't think many Peds are used to dealing with things like amino acids, etc. When you involve another Dr. requesting those tests, it gives the first Dr a way to get you insurance covered testing, without the responsibility of treating things that they don't know about. I didn't figure that out, until well after I went thru the maddening experience. I totally believe that your little guy has some things that medically need to be dealt with. Hang in there. There are so many here willing to help. You are doing a great job of getting a start on helping your little guy. Gotta run right now, but i'll try to think of some other things that might be helpful for that appt. It's so frustrating to leave with useless info and brushed off concerns. Hopefully you won't have that experience.

CP, I think this may have some info that you would be interested in. I'm highlighting this part, as the first time you mentioned it, I had no clue what it was referring to. I want to mention too, that with a CBS mutation (which I'm assuming we probably have) I read on the Yasko forum where you want to have 1 meal per day containing protein. The fact that the need for amino acids, which I think they are referring to the amino's that you would get from eating red meat (?) are important, but the inability to keep ammonia levels in check is problematic. Again, it occus to me that this is almost exactly what my son has done on his own. He has limited his protein intake. There is a specific ammonia protocol layed out on the forum. Ok, this was the part of this article that I want to post for you. I'm still looking for a good thread or info on the sodium potassium ratio. I found one, but it refers to high potassium and high sodium. I'll leave the link. You may see something there, that I'm not picking up on. http://64.233.167.104/search?q=cache:P8tYw...;cd=7&gl=us 24, 25, 26. Citrate, cis-Aconitate, and Isocitrateare involved in both energy production and removal of toxic ammonia. High levels can indicate ammonia toxicity. Chronic loss of these valuable compounds can contribute to loss of organ reserve and disturbances in neurological function. If they are low they can indicate a need for essential amino acids, especially arginine. This is the thread that was talking about sodium/potassium on Yasko http://www.ch3nutrigenomics.com/phpBB2/vie...potassium+ratio Want to mention too.....there are SEVERAL places that talk about balancing glutamate and GABA as a first step. These references are in regards to autism, but I'm really starting to have a new interest in GABA. I'm not recommending everyone start taking a lot of GABA, but it does look like something that could be more helpful/important than what I thought.

Sunshine, Thank you so much for that last post. It sounds like YOU are the one who is able to wade through all of the mumbo jumbo quite efficiently! I'm reading my eyeballs out on the Yasko forum. Amazing info that clarifies a lot of questions I've had. Thanks CP I just have to wonder if you would see an improvement in your sons tics if you did a low protein diet for a week or two. I'm not saying that is any answer long term, but I'm getting the feeling too much protein may be responsible for some flare ups. I'm wondering if you have read this paper? I'm not looking at the chronic infection part, I'm thinking of a condition where the GAGS are not sulfated properly (genetic...maybe with a little help from environmental or vaccine damage). I'm also thinking of your son's test results showing protein metabolism problems. I am becoming more and more convinced that my instinct about not forcing protein (adding a protein powder to drinks) on my youngest son may very well have been right. http://osiris.sunderland.ac.uk/autism/owens.htm Supporting that supposition is evidence that those who have protein malnutrition produce insufficiently sulfated GAGs. (58) Even with a normal diet, chronic infection might lead to GAGS shedding and replacing themselves so quickly that there would be inadequate sulfate to insure the proper structure and surface charge on new GAGs that are forming. At that point, one might expect to find evidence of this lack of sulfate in poorly formed GAGs (80), and might also expect to see other sulfate-requiring systems of the body going lacking. This article is interesting too. I believe it is talking about an extreme in ammonia problems, but I did find this interesting http://www.emedicine.com/ped/TOPIC1057.HTM and and

Cheri, I missed sending a congrats to you and your son! I see you're back and wanted to say, I hope you had a wonderful weekend with your oldest son. Glad you had a safe trip. Kim

Donna, I think Betaine HCI is some thing that is recommended for riding gut strep(????). I have always found the gut PH stuff confusing, since they say that low acid can mimic the symptoms of overproduction. I know agents to reduce stomach acid, long term, can interfere with the absorbtion and even production of some vits, yet if you add acid to the wrong childs gut, you can cause big problems with ulcers. Donna, I think you asked what tests or Dr. are recommended. If you check the top of the forum there is an essential threads option. Claire, who did a lot of great work on this forum has a testing thread there. There is also info on Doc's. Many are using DAN Dr.s (Defeat Autism Now) or Environmental etc. A good CSA or Comprehensive stool anaylsis may be helpful. There has also been discussion here about test strips that can be ordered that tests gut PH. This is an area, that I could use brushing up on too. I'm going to leave these two sites here, so I can go back an read them more thoughly when I have a chance too. http://www.herbs2000.com/h_menu/betaine_hydro.htm Betaine hydrochloride ( HCI ) ( Hydrochloric acid ) The digestive process takes place as food passes through the mouth, stomach, small intestine, and large intestine. One of the most important parts of digestion occurs in the stomach, where gastric (stomach) acid helps break down proteins for further digestion in the small intestine. Digestion Digestion includes mechanical, chemical and absorptive events. Throughout its length the digestive tract is internally lined by a mucus-protected epithelium. Such mucus acts as a lubricant, thereby facilitating food movement and protecting the epithelium from mechanical abrasion. Mechanical events in digestion start with chewing, and continue along the digestive tract through diverse peristaltic movements. Starch hydrolysis begins in the mouth, through the action of sallivary amylase. This enzyme cleaves starch into maltose, but its action is very short-lived since the enzyme is inactivated as soon as it reaches the low-pH environment of the stomach. The stomach secretes hydrochloric acid and pepsinogen (an inactive protease). HCl affords some pretection against bacterial collonization, and converts pepsinogen into its active form, pepsin. The stomach itself is protected from HCl and pepsin due to the presence of a thick, alkaline, mucus that neutralizes the acid before it reaches the gastric epithelium. At the parietal cells lining the stomach, carbonic anhydrase catalyses the reaction: http://www2.ufp.pt/~pedros/qfisio/digestion.htm Digestion Digestion includes mechanical, chemical and absorptive events. Throughout its length the digestive tract is internally lined by a mucus-protected epithelium. Such mucus acts as a lubricant, thereby facilitating food movement and protecting the epithelium from mechanical abrasion. Mechanical events in digestion start with chewing, and continue along the digestive tract through diverse peristaltic movements. Starch hydrolysis begins in the mouth, through the action of sallivary amylase. This enzyme cleaves starch into maltose, but its action is very short-lived since the enzyme is inactivated as soon as it reaches the low-pH environment of the stomach. The stomach secretes hydrochloric acid and pepsinogen (an inactive protease). HCl affords some pretection against bacterial collonization, and converts pepsinogen into its active form, pepsin. The stomach itself is protected from HCl and pepsin due to the presence of a thick, alkaline, mucus that neutralizes the acid before it reaches the gastric epithelium. At the parietal cells lining the stomach, carbonic anhydrase catalyses the reaction:

Donna, Did you find Dana's site? She has a pretty good page http://www.danasview.net/phenol.htm Also, Houston Pharmaceuticals has an enzyme called No Fenol. Some have had success with reducing Phenol reactions with that product. We use Houston zyme Prime and Peptizyde. We have had our share of acidy stomachs with the boys too. We used TUMS before I knew any better (aluminum..we avoid as much as possible!) The enzymes seem to help a lot. Here's their site. They are plant based. http://www.houstonni.com/

Donna, Sorry about the quick reply, I only had a minute. Thinking about the discussion here, I thought you might find some useful info on this thread. With the link that you seem to see with the dyes, you may find some of posts here interesting. BTW, welcome to the forum and I hope you find some answers to help your little guy here quickly! http://www.latitudes.org/forums/index.php?...c=3208&st=0

Donna, I'm thinking that craving the baking soda has to do with the Ph and acidity issues with the gut. Does your son have reflux issues? Does he crave sugar or carbs? It seems that your son maybe telling you something important with that craving. You might want to read these.... ARM & HAMMER® Baking Soda - BASICS - THE MAGIC OF ARM & HAMMER ...Baking Soda, alias sodium bicarbonate, is a naturally occurring substance that is found in all living things, where it helps regulate their pH balance. ... www.armhammer.com/basics/magic/ http://www.nlm.nih.gov/medlineplus/druginf...er/a682001.html Do not use sodium bicarbonate for longer than 2 weeks unless your doctor tells you to. If sodium bicarbonate does not improve your symptoms, call your doctor. Do not give sodium bicarbonate to children under 12 years of age unless your doctor tells you to.

In addition to above, I'm wondering about the "sulfa" allergy too, If glucuronic acid is involved in the metabolism of so many things, drugs included, just wondering how that fits in. This was interesting too, from an old article written by Bonnie (Bontech vits). http://www.bio.net/bionet/mm/neur-sci/1996...ary/022416.html He also is allergic to sulfa, molds, dust, grass, trees, and most airborn allergens. He has been on the vitamins below for 1.5 months and the teachers

Greyhound...thanks for adding. I remarked on another thread about confusing gluconic acid for glucuronic acid. They are chemically very similar, but the study refers to glucuronic acid. So, this is part of what wiki says about glucuronic acid. glucuronic acid (GlcA) http://en.wikipedia.org/wiki/Glucuronidation#Glucuronidation Glucuronic acid (from Greek γλυκερός - "sweet") is a carboxylic acid. Its structure is similar to that of glucose. However, glucuronic acid's sixth carbon is oxidized to a carboxylic acid. Its formula is C6H10O7. Glucuronidation Glucuronic acid is highly soluble in water. In the animal body, glucuronic acid is often linked to the xenobiotic metabolism of substances such as drugs, pollutants, bilirubin, androgens, estrogens, mineralocorticoids, glucocorticoids, fatty acid derivatives, retinoids, and bile acids. These linkages involve O-glycosidic bonds, and this linkage process is known as glucuronidation.[1] Glucuronidation occurs mainly in the liver, although the enzyme responsible for its catalysis, UDP-glucuronyltransferase, has been found in all major body organs, e.g., heart, kidneys, adrenal gland, spleen, and thymus.[2] UDP-glucuronic acid (glucuronic acid linked via a glycosidic bond to uridine diphosphate) is an intermediate in the process and is formed in the liver. The substances resulting from glucuronidation are known as glucuronides (or glucuronosides) and are typically much more water-soluble than the non-glucuronic acid-containing substance from which they were originally synthesised. The human body uses glucuronidation to make a large variety of substances more water-soluble, and, in this way, allow for their subsequent elimination from the body upon urination. Hormones may also be glucuronidated to allow for easier transport around the body. Pharmacists also commonly link drugs to glucuronic acid to allow for easier drug delivery. CP, Look at this, keeping in mind that our kids appear to have low levels of phenylacetate (just that one for now). http://www.drugs.com/ppa/sodium-phenylacet...m-benzoate.html Sodium phenylacetate and sodium benzoate are metabolically active compounds that can serve as alternatives to urea for the excretion of waste nitrogen. Phenylacetate conjugates with glutamine in the liver to form phenylacetylglutamine (renally excreted), and benzoate conjugates with glycine to form hippuric acid (renally excreted). This results in reduction of waste nitrogen levels in patients with deficiencies of urea cycle enzymes, thus attenuating ammonia and glutamine-induced neurotoxicity. I'm wondering if your test shows phenylacetylglutamine? If we have zip phenylacetate, it seems to me that we are probably not making it to phenylacetylglutamine properly, but without that value (our test doesn't show) i don't know for sure.

Original article regarding NAG and autoimmune issues http://today.uci.edu/news/release_detail.asp?key=1666 Michelle, I didn't want to clutter up Mack5moms thread about azith, but did want to respond to you. I think that article is a good case for the immune modulating effect. I don't think it says anything about it's use prophylatically? That would probably be the arguement that you would get. Quite honestly, I would want to discusee the info on the use of N acetyl glucosamine with the nearest DAN, myself. It might be worth your while to join this group and read the thread regarding it. Not a lot of indepth info, but a few discussing it's use in regards to PANDAS http://health.groups.yahoo.com/group/Autism-Immune/ I'm having a hard time thinking that the bony tumor study referring to a lack of GlcNAc and glucuronic acid (not gluconic which I have been referring to it as)and a suspected relationship to autistic like symptoms and this new info regarding GlcNAc is just a coincidence. A friend of mine knows that I have an interest in it, and sent me the link to that group. I am becoming more than just a little curious about just how many of us may be dealing with malfunction regarding one, the other or both. I have thought of you and your son, so often when wading through all of this. When you mentioned his nails, I wasn't surprised at all. Sure don't have all of the answers, but it feels like there's important correlations here. You might want to read thru a few articles here as well, Michelle. http://www.google.com/search?hl=en&rls...ion&spell=1

Myrose, Just my thoughts on this. I have never considered my boys PANDAS because of "no overnite change, or explosive onset." That is not to say that I haven't seen personality/handwritting changes, or increased urination with relationship to strep or illlness. I believe that the increase in frequency can involve more urine production or not (sometimes an increase in thirst seems to accompany and sometimes not). I did a little investigating a while back, and MHO was that the increase frequency was neither a tic or compulsion. It was something chemically "off" once again. Some things that I looked at were the sodium potassium exchange that influences bladder function (i believe my boys have always had somewhat "different" hydration issues...like the lip swiping tic resulting from an exaggerated dry lip feeling that we all may get, but not to that extent) the possiblility that there is an epinephrine/norepinephrine involvement etc. If you search something like "central nervous system urination," you see where there are many things that could be influencing that urge that are biological events like oxidative stress. This was on e article that I had saved to my files. It talks about using CO Q10 to treat nervous bladder. http://www.freepatentsonline.com/4031205.html

Michelle/all I know you are always on the lookout for Azith articles. Don't know if you have this one, or if it's something that would be useful to take to your Dr? That "acetylcarnitine" seems to pop up in more than one place too. http://www.pubmedcentral.nih.gov/articlere...i?artid=1562448 Azithromycin in Chronic Fatigue Syndrome (CFS), an analysis of clinical data

Myrose, I'm so very happy to hear that things are looking up for your daughter with the beautiful name. I just luv it! I too am hoping that you can get some much deserved rest. I don't know how closely you've been following the posts about sulfated GAGS lately, but this looks interesting. It sure sounds like it has some things in common with what I've be trying to figure out here lately. The study from the boney tumor talks about GLcNac (my understanding plays a role in protecting from autoimmune attack) and gluconic acid being inactivated, resulting in reduced surface area of the AMPA glutamate type 1 receptors. When I was trying to figure out those receptors they needed GABA to calm excitatory signals. There is a little more to that (the lack of heparan sulfate) but I'm doubting how that fits in at the moment. Anyway..... http://en.wikipedia.org/wiki/Topiramate Pharmacodynamics Chemically, topiramate is a sulfamate-substituted monosaccharide, related to fructose, a rather unusual chemical structure for an anticonvulsant. Topiramate is quickly absorbed after oral use. Most of the drug (70%) is excreted in the urine as unchanged drug. The remainder is extensively metabolized by hydroxylation, hydrolysis, and glucuronidation. Six metabolites have been identified in humans, none of which constitutes more than 5% of an administered dose. Topiramate enhances GABA-activated chloride channels. In addition, topiramate inhibits excitatory neurotransmission, through actions on kainate and AMPA receptors. There is evidence that topiramate has a specific effect on GluR5 kainate receptors. It is also an inhibitor of carbonic anhydrase, particularly subtypes II and IV, but this action is weak and unlikely to be related to its anticonvulsant actions, but may account for the bad taste and the development of renal stones seen during treatment. Its possible effect as a mood stabilizer seems to occur before anticonvulsant qualities at lower dosages. Topiramate inhibits maximal electroshock and pentylenetetrazol-induced seizures as well as partial and secondarily generalized tonic-clonic seizures in the kindling model, findings predictive of a broad spectrum of activities clinically. http://en.wikipedia.org/wiki/Sulfuric_acid Many proteins are made of sulfur-containing amino acids (such as cysteine and methionine) which produce sulfuric acid when metabolized by the body.

In light of my last post, I just wanted to quickly add that I DO NOT BELIEVE every child who experinces a tic/tics has a predisposition to serious illness. We have a very diversified group here, and info shared on this thread may only apply to a small %. I guess we are all here, for answers other than the ones we have been given in most cases. It's very hard a lot of times to decide what could be helpful and harmful when posting. This is very speculative at this point, on my part!

Sunshine, Again thank you for that wonderful post. You threw me right in bmom's boat with the palpatations thing. I was so sure it was hubbies side, then started to suspect I play a part here too. If GABA doesn't cross the BBB, but works to balance the glutamate/GABA in the rest of the body, well I might have to take note too. I also see psorisis linked to 8q24 one of the suspected "bony tumor" genes. Uggggh. This is such a hugely complicated subject, I'm SO glad you didn't abandon this site. One thing though, do you have the number of a neuro that will tell me that this is JUST TICS. I think I would really like to hear that again! I kind of dropped the genetics connections, because I didn't want to scare the daylights out of people. I'm not saying that i fear dreaded conditions, just want to minimize the chance and optimize the good stuff. I am getting a big dose of "calm" from somewhere and I don't think it's totally from magnesium, but I do have my moments of this being a little bit more than I can handle. Tics are so greatly subsided from younger years, but this is almost more about other things now, as in longer term health. Since your son has the PANDAS connection Sunshine, can you say if you saw an overnite explosive onset of any symptoms, or just a worsening during strep. I think there are many people that may like to hear that answer. Faith, I suspect Sunshine has done her own research on the Yasko forum AND followed the rec. of her Dr. Here is the website. It talks about the top 10 supplements, lots of info for the MTHFR mutations and I did find CBS (and more). You can find more info there than you will probably be able to process. Just take it slow (words of advice to myself as much as you!) two mutations in MTHFR, that would make a difference, no... I didn't realise that. If what I suspect is right, Step 1 Support for glutathione/sulfur: * USE LIMITED support if you suspect a CBS up regulation That is contrary to what I would have thought, but there are reasons for it, that make sense. http://www.ch3nutrigenomics.com/phpBB2/ind...69514449e8233c0 CP can you check clostridial marker dihydroxyphenylpropionate on your sons test too. Again, we were under 0.1 very very low also tricarballylate too. I started with a 3 form of B12, recently went to a methyl sublingul B12. Little one has a slow head turning thing going on. It is only a 1 mg tablet. I know I can get reg Dr. to test B12 for me. He recently checked vit D levels and they were fine (i was sure it would be..his idea), but it may be a problem with the receptors. That's the tricky part about this blood work. I don't want the boys poked anymore than necessary so I've been holding off until I knew exactly what I wanted out of the next round. Youngest, it was recommended for, with the last strep episode. We have had unusally low white count with one rashy high fever illness. Apparently white count was ok, which was somewhat reassuring. I still have to get my copy of that bloodwork.

Sunshine, For me you are the shortstop, pitcher, center fielder, first baseman. Thank you so much. I spent a little time on the Yasko site today. The CBS is considered an upregulation? I mostly get the part about the gate sort of being stuck open. Goes to show how complicated all of this is. I had asked you for a phone # in a post a ways up. I found it, and plan on calling the first part of the week. I was deleting some old PM's and noticed where Dee had said that two phone consults totaled a fairly hefty amt. I plan on understanding as much as possible before I get on that phone! To make things just a bit more complicated, it seems the genetics profile has changed recently. I don't see where the CBS is called CBS. I saw the part about vit D being important in sugar regulation, all kinds of things that made me want to cry and jump up and down for finally thinking I'm on the right path for helping my youngest son have a shot at eating normally and maybe avoid problems with diabetes in the future. I also thought I maybe could have the genetics panel with recommendations done, and go from there quite a bit on my own. The more I read, the more I felt some of the other testing, might be necessary as well. Can you comment on what testing you had in addition to the genetics? I hope you had a wonderful day with your family Sunshine, and thank you again for all of your help.

CP, Interesting about the B12. Is that 1000 mgs or mcgs though? CP, you mentioned methylation markers being fine. If it isn't a really long list, could you say what they tested for? Faith, I could be totally wrong here, but I thought that I had read where the thermal (thermo?) form really wasn't significant where homocysteine was concerned? Was that the only mutation that was checked for? Look at this Faith. bolding mine http://www.med.uiuc.edu/hematology/PtHomocysteinemia.htm There is another type of mutation that can occur with MTHFR. This mutation results in a thermolabile variant (that means that the protein becomes inactivated with heat). A patient who is heterozygous for this mutation has no evidence of hyperhomocysteinemia or increased risk of thrombotic disorders. Patients who are homozygous (see * below) for the defect can develop hyperhomocysteinemia. In addition to the above causes, deficiencies in Vitamin B6 and folate can lead to increased levels of homocysteine. Other causes include certain medications and kidney disease. and The prevalence of hyperhomocysteinemia in the general population is not known. Studies looking at the prevalence of homozygosity (both (2) copies of the gene are mutated) for the thermolabile variant mutation in MTHFR have shown a prevalence near 15% in European, Middle Eastern and Japanese populations, compared with a range at or below 1.4% in African Americans. Patients who are heterozygous (1 copy of the mutated gene) are seen in 30-40% of the population.

Myrose, Thank goodness you have two calm level headed people responding to you myrose. I just had to go back and remove some rather strong language from the thread where vaccine issues were being discussed, because I gave in to the old rant monster. I will be anxious to hear the explaination for not sharing the info from the EEG too. I'm sure they will say that it wasn't significant enough at that point to alarm you with or something like that. My family learned the hard way, to ask for written reports on things like that. A test was performed to rule out a serious condition. We were told everything was fine, just keep an eye on things. 4 years later, when it became apparent that it wasn't fine, a report surfaced showing that the initial test couldn't rule out the condition, which is easily tested if you go one step further. Had my family member been informed, they certainly would have requested the simple test that could have ruled the condition in or out, and been spared a much more serious situation later on. This is not related to tics or my kids in anyway. I think your situation is another example of why that's a good idea. BTW, I have had heart palps since about 11 yrs old. I was told it was more or less a nervous condition. You might want to think about upping magnesium intake too. I wish I would have known about it years ago.

Faith, I'm thinking that my youngest son, and this finger/toenail issue is pointing to a problem with cysteine that he was born with. Now remember, oldest son had perfectly normal nails. It doesn't have to be present. I had a root canal btwn two sons birth. Removal of old amalgam replacement with new. They didn't cap it, since they said the tooth still appeared strong. Does that have anything to do with anything, I don't know. Just trying to think of what may have changed btwn the two, and why one had those nails and the other didn't. Sunshine's son had the problem nails, and a couple others here mention it, so I'm thinking in the study that I have been focusing on, the people with congenital hereditary form of bony growths, may have a different or more severe mutation or combo of things. It's just like using autism studies to find clues. Not autism, but some overlap. I'm thinking that we have the same problem with undersulfated GAGs but from a different source. In our case the CBS mutation makes sense. People with the hereditary form are usually short. My boys are both right near the tallest in their class. I'm wondering too, why they talk about "autistic" traits, not tics. Well, I'm not helping you out much here am I? I understand your frustration Faith. I have seen cynocobalimin mentioned as a starting point on the Yasko forum and I think it was mentioned in the article that I just posted. Maybe the methyl form isn't right for your son. Maybe there are other missing pieces, but getting that pathway functioning right is the first step. I agree about "theories" becoming too focused on, and individual circumstances not being taken into consideration enough. There were things that needed specific supplementation of Sunshines son, besides what was needed for the CBS mutation. Back to the "the study" on bony tumors for a sec. They said that the surface area of the AMPA lacked gluamate receptors (GluR1's), due to undersulfated heperan sulfate (i think). These receptors are sensitive to GABA, but my uderstanding GABA doesn't cross the BBB. They do respond (increase) to nicotine. Hmmmm. I'm a little convinced there is a big clue there. I guess I'm bring that up because I wonder what neurons or receptors would be affected in a mthfr mutation. The same...or different? I can't help but to go back to the problem that you mentioned with your Dad. Have you ever had any kind of a lipid profile? I know MTHFR (although no clue about the type your son tested for) could result in an inability to excrete toxins, the whole methionine /glutathione thing, even if it doesn't affect sulfur metabolism. I'm wondering if oral or trandermal glut was ever recommended for your son. Honestly Faith, there could be SO many missing steps there. I can't remember what tests your son had? I have a feeling this post is a jumbled up mess.

Faith, I think I'm finally understanding the MTHFR/CBS a little better. It looks to me like a MTHFR mutation would result in inadequate methione which would throw off the CBS cycle without having a mutation in CBS. If methionine isn't there, you aren't going to make it to sulfate. Can someone else look at this diagram and see if that's what they get out of it? I think that's why these two things are discussed together in a lot of articles. I think about the mom who posted recently about lack of ability to utilize B12. Her child develops tics.....no one is looking for these things??????? In that situation, it may not be a mthfr or cbs mutation, but again, you need these pathways to function right no matter where in the chain the glitch is. I'm not sure how the therma variant fits into this. Would that pathway only be affected during an increase in body temp? Did your Dr. that tested for the MTHFR mutation explain any of it to you? http://circ.ahajournals.org/cgi/reprint/99/1/178.pdf

CP Does it look like having a CBS mutation would result LOW forms of at least some forms of yeast. I'm thinking that the low readings in the Phenylpropinonate and phenylacetate are due to low gluconic acid (?) but this looks interesting too. Did your sons testing reflect B12 or folate? http://www.ncbi.nlm.nih.gov/pubmed/1754059...Pubmed_RVDocSum Missense mutations in the cystathionine beta-synthase (CBS) gene, such as I278T, are responsible for CBS deficiency, the most common inherited disorder in sulfur metabolism. and Expression of human mutant CBS proteins in Saccharomyces cerevisiae reveals that most disease causing mutations severely inhibit enzyme activity and cannot support growth of yeast on cysteine-free media. Here is another article on CBS http://www.ncbi.nlm.nih.gov/pubmed/1768664...Pubmed_RVDocSum Increased homocysteine concentrations in CBS gene mutation carriers are associated with reduced concentrations of folic acid and vitamin B12 in blood. In view of the adverse effects of mild hyperhomocysteinemia, routine testing of vitamin status in parents of homocystinuria patients may be warranted. The causal relationship and pathophysiological consequences are uncertain; it is likely that CBS gene mutation carriers need higher doses of dietary vitamins.