I did recently write a post all about Taurine and the many effects it has on the body, some of which really should affect autism.
Taurine for subgroups of Autism? Plus, vitamin B5 and L
Carnitine for KAT6A syndrome?
Having read
the literature, it looked to me that anyone over 50 years old is likely to benefit
from a little extra Taurine, but it certainly was not clear whether it would
make my 21 year old’s autism better or worse. I went ahead and ordered some to
investigate.
In theory
one of the many effects of Taurine is negative. Taurine does affect the KCC2 transporter
that takes chloride out of neurons the “wrong” way. The other effects include
on calcium homeostasis, which we know is disturbed in most autism.
N = 2 Trial
Subject #1 (Peter)
I took 2g a
day for a month and noticed no effect at all, other than some mild GI
irritation.
In adults
the long-term effects are numerous and varied throughout the body. Even the
cells that remodel your bones (osteoblasts and osteoclasts) have special
taurine transporters, whose sole role is to let taurine inside – taurine makes the
osteoblasts work harder, while encouraging osteoclasts to take a break. The net
effect should be stronger bones. As you get
older your natural levels of taurine fall substantially. There are taurine-rich
foods you can eat and if you engage in strenuous exercise your liver starts making
more taurine.
Subject
#2 (Monty)
There is a
clear contradiction when it comes to Taurine and sleep. Many energy drinks
contain Taurine to keep you alert, but in theory Taurine should be calming and
many people take it add bedtime to improve sleep.
Monty, aged
21 with ASD, likes getting up early and going to bed early.
Adding 2g a day of Taurine at breakfast shifted his circadian rhythms, so that he now goes to bed at a time typical for a 21 year old, but still wants to get up at 7am. Monty even fell asleep on the sofa watching TV late one night, something big brother often does. Indeed, Monty received a nod of approval when big brother discovered him in the early hours.
The most
beneficial change has been on his spring and summertime aggression. This has
been controlled for years using an L-type calcium channel blocker. This does
not resolve the allergy at all, but it “switches off” the consequential
anxiety/aggression. With the addition of allergy therapies and the
immunomodulation of Pioglitazone (in peak allergy season) the problem behaviors
are controlled.
It appears
that Taurine has a similar anti-anxiety/aggression effect. Maybe its effect
on calcium channels and broader calcium homeostasis is the reason why. Anyway,
it works – simple, cheap, OTC and effective.
It has no effect on allergy, in case you are wondering.
Conclusion
Taurine can
be bought as a bulk powder for very little money. It is not like those numerous
expensive supplements that would cost you several hundred dollars/euros/pounds
a year.
If you have your
own “healthspan polytherapy”, to ward off high blood pressure, high cholesterol,
type 2 diabetes, dementia, arthritis, osteoporosis etc, consider spending a few
pennies more and add a scoop of taurine.
The people who
write to me and tell me how Verapamil has transformed life at home, by banishing
aggression and self-injurious behaviors, should seriously consider a trial of
Taurine.
"In theory one of the many effects of Taurine is negative. Taurine does affect the KCC2 transporter that takes chloride out of neurons the “wrong” way. The other effects include on calcium homeostasis, which we know is disturbed in most autism." Peter can you elaborate on taking the chloride out of neurons the wrong way and the impact it has. The last post you had there were so many positives. Also is your son sleeping less now that he is going to bed later?
ReplyDelete.
There are many positives. The effects will all likely be dose dependent and a negative effect might be so small that it is irrelevant.
DeletePeople who respond to bumetanide have too many NKCC1 transporters relative to KCC2 in their neurons. This raises the baseline level of chloride so high that when a GABAa receptor is activated chloride ions flow out of the neuron. In a mature neuron chloride is supposed to flow into the neuron when GABAa receptors are activated. This is why GABA appears to act "in reverse".
There are many potential ways to correct the NKCC1/KCC2 imbalance. The best drug currently is bumetanide. Reducing inflammation will have a positive effect. Taurine has an effect but in the unhelpful direction. It will to some degree reduce the effect of KCC2 which lets chloride out of neurons. It was not clear whether 2g of taurine would have a noticeable negative effect - it appears not to.
My son spends less time in bed, but it is still plenty. I was surprised taking taurine at 7.15 am could affect your sleep at the end of the day.
So I'm just wondering if a higher dose of taurine would be of any benefit. Could you take it up 4 . 6 . Or even 10g what effect would it have thanks
ReplyDeleteSome people do take 2g of taurine three times a day for various conditions. If you wanted to increase longevity you might well end at 10g a day.
DeleteIt may well be that for certain conditions like eye degeneration or osteoporosis only a high dose has a measurable benefit.
I am surprised that 2g once a day has the effects it has on my son.
We see huge benefits with acetylcholine meds/supplements and were surprised to find a few years back that impact in our case of taurine was similar to acetylcholine.. i did not find the underlying cause until i read this paper that says acetylcholine enzymes are affected by taurine https://journals.lww.com/nrronline/fulltext/2024/01000/emergence_of_taurine_as_a_therapeutic_agent_for.10.aspx#:~:text=In%20a%20study%20involving%20subchronic,restored%20to%20normal%20by%20taurine.
ReplyDeleteWhat does of taurine were you using
DeleteWe see impact with just 500mg in the morning. The effect does wear off by evening
DeleteHi Peter. I have been reading the posts from the last 24 hours. Can you help with this? There was one line in the research from the post from anon above --that taurine increases brain glutamate receptor type five (mGluR5) uptake and increases cerebral blood flow. Then in a Pandas post it seems like you want something of a mGluR5 inhibitor or modulator? Are they doing different things? Or both managing the glutamate excess?
ReplyDeleteIn this old post there is a useful chart showing the idea of correcting mGluR5 expression, to improve brain function.
Deletehttps://www.epiphanyasd.com/2015/02/tuning-gabaa-receptors-plus-oxytocin.html
Clearly mGluR5 is disturbed in various types of autism, but you can have too much or too little.
Taurine's effect on mGluR5 seems to be indirect.
Exercise, social interaction and even cognitive challenges enhance mGluR5 function.
It is a very complex subject which is still being researched. There are no mGluR5 drugs yet approved.
This is very interesting Peter .My son has been out of school for about 4 months now and educated at home.
DeleteWhen we took him out he was in a very bad state and with daily walks every morning before he begins works with his tutors and 2 hours of structured outdoor activhctues in the park ,swimming , horse ridding ,going to feed donkeys ,cycling etc we have seen a lot of improvement in him .its as if something clicked in his brain .Hes displaying a lot of initiative .going to take a bath by himself ,brushing his teeth without being told though will take the wrong brush and following lots of instructions and now not running away and also reduction in ocd and very social now and trying to play with siblings though he doesn’t know how .He will push then and want them ti chase him and going to the garden to throw a ball into a hoop repeatedly which he would never do before.
Please what do you think would help bumetanjde or verapamil as he has some autophagy ambra 1 gene.I just received my bumetanjde and verapamil order so I don’t know which one to use .
He’s currently on intuniv 3mg and weighing about 37kg.
Apinke
Apinke, since your earlier trial of bumetanide was sucessful, but the school complained about the need for toilet breaks, I would start again with bumetanide. 1mg first thing in the morning is usually the least disruptive, but since your son is out of school you can pick the best time.
DeleteYou should see improvement starting after 10-15 days. Remember to add potassium in diet (banana, kiwi etc) and a supplement of about 200mg.
Intuniv/Guanfacine lower blood pressure. Bumetanide reduces blood pressure by reducing fluids in your body. When taking bumetanide for autism you need to drink much more fluids to add back what was lost in increased urination.
Many drugs repurposed for autism lower blood pressure. Care has to be taken and so you should check your son's blood pressure.
People do use multiple drugs for autism that can lower blood pressure, but sometimes the dose has to be limited by the effect on blood pressure.
I would buy a home blood pressure monitor and keep a record of his results.
Verapamil also lowers blood pressure. It would be safer to trial Taurine as an alternative.
I think after a few months on bumetanide you may no longer need the Intuniv. Then you might trial Verapamil.
Exercise is indeed one of the best therapies. It is now known to trigger a wide range of beneficial biological effects.
Thank you son much Peter .he won’t take bananas or kiwi is there a potassium supplement you can recommend.The dissolvable one in France is not being sold any longer .which brand do you use ?We have a blood pressure monitor .I will start today to have a baseline and see .
DeleteI will also try and see if he will take banana smoothies .
Will start the Bumetanide .what dose of taurine would you recommend .
Thank you
Apinke, potassium chloride and potassium citrate are sold as cheap bulk powders online. Either one should work fine. I am using potassium citrate. Taurine is also sold this way, I suggest you try 2g. You then can add these powders to a drink and stir well. Potassium taken as a tablet can cause GI irritation.
DeleteThank you so much Peter.This is very helpful .Please can I use taurine together with bumetanjde or I should use bumetanide on its own first .
DeleteThank you
Since you already know he is a bumetanide responder you might as well start both. Any effects in the first few days will be from the taurine.
DeleteThank you
DeleteHi Peter sorry to bother you again .The 2g of taurine ,should this be at once or split across the whole day and is there any side effects like loss of sleep if given at night .what do you think about giving thrice a day or it doesn’t matter if given once?
DeleteThank you
I can only tell you what I am giving, which is 2g once a day at breakfast time.
DeleteSome people do take taurine at bedtime to sleep better.
You might think giving it twice a day might be better, but once a day is simpler and works.
People respond differently, just make a trial and see what works best. I doubt it will help everyone.
Thank you Peter .Will try once a day
DeleteOk I’ve been on 1mg bumetanide for 2 months for a 140 pounds 11 year old. Is it the dosage - I am not seeing much improvement. Any suggestions Peter/others for non-bumetanide responders ?
ReplyDelete-Dadulon
For someone of that size you need a larger dose to know if he is a bumetanide responder. He is on the 95th percentile for weight.
DeleteI suggest you use 2mg once a day, or even more. Maybe 2mg in the AM and 1 mg in the PM.
1mg is a good dose for a child a third of his weight.
Try adding magnesium biotinate on top of bumetanide. They hit similar cytokines.
DeleteStephen
Thanks Stephen
DeleteThanks Peter and Stephen - Dadulon
DeleteSorry, I forgot to add the links to which cytokines are involved.
DeleteRegarding the decreased levels of MDA, IL 2, IL 17, TNF-α, and NF-KB in torasemide group compared to saline group in the present study, it can be suggested that torasemide can have beneficial effects on the neurobiological errors in the brain tissue of ASD via the prevention of neuro-inflammation.
Torasemide Improves the Propionic Acid-Induced Autism in Rats: A Histopathological and Imaging Study
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9984905/
I been currently fascinated with malondialdehyde
Therapeutic Effects of a Novel Form of Biotin on Propionic Acid-Induced Autistic Features in Rats
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8955994/
Of great interest, MgB significantly reduced oxidative stress in PPA-induced autism-like rats, characterized by the significant increase in antioxidant enzymes (CAT, SOD, GPx, GSH) and a decrease in lipid peroxidation (low MDA level). Moreover, MgB enhanced learning and memory in PPA-induced autism-like rats in a dose-dependent manner.
-stephen
My 5 year old has got uk NHS genetic testing results stating unlikely to be affected with Fragile X syndrome and there was no significant abnormality on his microarray. Mild autism in mainstream school. Will I benefit from WES genetic testing? If so which is best place to get it privately preferably UK ,Europe.
ReplyDeleteThanks
Since it is mild autism it is unlikely to be a single gene type of autism. It is likely to involve multiple genes. WES is unlikely to lead to effective therapy and you would not get that from the NHS anyway. Severe autism does warrant WES.
DeleteMuch mild autism does not seem to need treating, but some people do struggle with this level of autism. There are hundreds of therapies out there for mild autism. Dietary changes can be beneficial and OTC supplements like NAC and ALA can be useful.
Hi Peter,
ReplyDeleteOff topic but what is the significance of Eosinophils when the parasite test comes back negative?
Apart from severe autism she is otherwise healthy apart from the unusually high eosinophils.
It is best to ask your doctor to investigate. You have ruled out one of several common causes.
DeleteElevated eosinophil levels, known as eosinophilia, can be caused by a variety of conditions and factors. Here are some common causes:
Allergies and Asthma: Allergic reactions, including hay fever, eczema, and asthma, can cause increased eosinophils.
Parasitic Infections: Infections caused by parasites, particularly those that invade tissues, can lead to elevated eosinophil counts.
Autoimmune Diseases: Conditions like lupus and rheumatoid arthritis can cause eosinophilia.
Skin Disorders: Certain skin diseases, such as eczema and dermatitis, can result in higher eosinophil levels.
Drug Reactions: Some medications can cause allergic reactions or drug hypersensitivity, leading to increased eosinophils.
Blood Disorders: Certain blood cancers, such as leukemia and lymphoma, can cause eosinophilia.
Gastrointestinal Diseases: Conditions like eosinophilic esophagitis or colitis can lead to elevated eosinophil levels.
Endocrine Disorders: Some hormonal imbalances, such as Addison's disease, can cause increased eosinophils.
People with autism very often have some kind of autoimmune condition and so this is good to identify and treat, since this will very likely reduce the symptoms of that person's autism.
Dear Peter, I have recently found your blog, which is a difficult read as I am coming from a neurodiverse, not disabled approach for the past 7 years. I know that my approach has helped my child with their emotions and self worth, but I am very willing (relieved) to see the impact of supplements on the traits he has to deal with.
ReplyDeleteI have a good brain, but severely burnt out by a decade of 2 children with separate needs, and appear to have lost the ability to absorb medical papers whole.
I ordered some carnitine and coq10, from the US because they needed to be gummy bears. I'm astonished, and deeply unnerved to find that on that first day, our 15 year old decided to sit with my husband for pizza, rather than retreating to his room. He has joined us for food once this year.
Last year my husband described it like the movie awakenings. He felt terrible saying it, but that was very close. Throughout years of gradual shut down/ complete sensory overwhelm, every so often he will "wake up" and we have no idea why.
I wrack my brain for clues in what he ate the previous day etc etc.. knowing that there must be a trigger.
He also has a pronounced tremor, which has got worse the less he engaged in any kind of movement.
I'm not sure if I'm asking a question, but now wonder if we need to speak to a doctor, and if so, what sort. At 15 very few paediatricians here in Australia will take him, but I can't help feeling we should get some kind of testing done.
Btw, so you have anywhere on your blog where you have a list of all the named supplements and medicines in order of trying them/ or expected impact or similar? I get so distracted by the science, which these days defeats me.
Dear Loulou, my approach is about enabling children (and adults) to achieve more and not to accept their neurological symptoms as being “hard wired” and so irreversible, because often they can be treated.
DeleteWe are all different, some people with autism or ADHD have really troubling symptoms and it would seem cruel not to treat them. Other people these days are just quirky or a bit odd and they now get a medical diagnosis and do not want or need treatment.
Your brain is changing every second, it has no wires. Autism can be thought of as an out-of-tune brain in need of some TLC to optimize it.
You have some people with “autism” whose symptoms fade away when they have a fever. You have people whose autism vanishes when their auto-immune disease is treated.
The fact your son has a tremor is likely a very important indicator/clue. You really would have to ask an open-minded neurologist what this indicates. Find the cause and treat it.
Treating autism successfully is all about following the clues that are unique to your case. For some people is its an auto-immune condition, for others it is a mutated gene, in your case it is a tremor. Maybe there are other clues when you look objectively at your son. The more clues the better.
There are non-medical practitioners active in Australia, as there are in the UK, selling all kinds of “tests” which you do have to be careful with.
For an actual medical doctor, most Australians seem to use an autism doctor in the US. This is only a tiny number of people, most will do nothing.
There are people with mild autism, or ADHD (autism-lite) for whom OTC supplements and dietary changes have good results.
I did make a list of many of the drugs and supplements, a while back. Here is a link.
https://docs.google.com/spreadsheets/d/0ByJafEi2YA2JM1pMYTIwaGphcGs/edit?usp=sharing&ouid=115374219403496686212&resourcekey=0-2HYgGkjFe5SivLZBrzHnhw&rtpof=true&sd=true
There is much more in my blog and it is all for free. My book is very much simpler than the blog. The eBook really cheap on Amazon.com
For level 3 autism prescription drugs will needed.
There is a lot of trial and error involved and just plain luck, as you found with carnitine.
There are thousands of types of autism and so there is no order in which to try therapies. The best thing is to follow the clues that are specific to your case. There are therapies that are very often successful, like the antioxidant NAC, which everyone should try.
Try this guy. Probably your best bet in the land down under.
Deletehttps://centrefordigestivediseases.com/about-us/professor-thomas-borody/
-Stephen
Hi Peter
ReplyDeleteI am hopefully going to get bumetanide prescribed soon. What you say about "dramatic increase in awareness" really excites me. Because I have been trying to explain this very thing to my doctors and psychiatrists for ages - I feel like a part of my brain is shut down, and not processing concepts, emotions and sensory input as it should - like a part of my consciousness is just somewhere else and can't voluntarily be brought back. I just don't fully connect with my experience in a dynamic way. Very, very hard to explain. It is NOT like dissociation - I don't feel out of my body etc. It's more like not being there at all, in a certain way. It is impossible to describe really, I never even knew I had this until I briefly experienced what I imagine being "normal" feels like after a high dose of cannabis and sulforaphane (interestingly, THC downregulates NKCC1!). This only happened once, and I have used cannabis many times. Unfortunately it doesn't agree with me longerm so had to give it up.
Could you elaborate a bit on how the Bumetanide affected Monty? Maybe not so much in terms of functioning, just his experience of life... that "increase in awareness" you mentioned...?
PS: I tried trimethylglycine, and it definitely did something but only at very high doses. I felt this baseline tension and physical/mental constriction I almost always feel lessen significantly, cognition/processing speed improved, and interestingly people approached me and made conversation with me (usually I am very unapproachable). I am buying it in bulk now and intend to use 20g per day or so.
If the benefits I experienced from TMG are indeed due to its effect on NKCC1, I am VERY excited to try bumetanide.
I think bumetanide has multiple potentially beneficial mechanisms, not just its effect on NKCC1.
DeleteIn level 3 autism the biggest hurdle is not "autism", it is cognition, or rather the lack thereof. In these people the "increase in awareness" is because their cognition has received a step change boost - they can now understand concepts that were previously beyond their comprehenson; a good measurable example is simple subtraction (9 - 3 = 6). Most cognitive benefits are less measurable, but often more valuable, like understanding when it is safe to cross a road.
It may well be that in some people with a less severe over-expression of NKCC1, you can have a normal IQ but still some cognitive deficits. These should improve with bumetanide.
The 5-HT2A serotonin receptor seems to often play a role in level 1 autism. Very likely it is often just one of a several factors that make some people feel as if things are not quite the way they "should be".
Hi Peter
ReplyDeleteMy son 5+ mild ASD started swallowing pills so we switched to NAC sustain. As it depletes DAO , I started before his first meal 1 veg NaturDAO + inulin. His school will reopen soon so can I give all- 2 NAC pills + DAO +inulin before food, after breakfast he will have multivitamins fish oil etc. He has eczema. So should I give NAC and DAO separate times? Thanks
Gabbana
Gabbana, since you are now using NAC Sustain you might as well give the pills at the same time. It is not conclusive that NAC inhibits DAO, some studies say it does not.
DeleteJust started bumetanide - my psych gave me a months worth of 1mg tabs, hopefully that is long enough to see whether it benefits.
ReplyDeleteI am slightly confused as to why effects take so long to show... Surely if it is simply an antagonistic effect, reducing chloride, results should be seen rapidly? Or is it gradual NKCC1 downregulation, as opposed to antagonism?
Bumetanide poorly crosses the blood brain barrier and so only partially blocks the NKCC1 transporter that lets in chloride ions. There are other transporters that also allow chloride to enter. So this partial blockade takes time to reduce the base level of chloride.
DeleteIt was found that bumetanide reversed the signatures of cultured human excitatory, inhibitory and dopaminergic neurons derived from APOE4/4 induced pluripotent stem cells.
DeleteIncreased levels of Cl− are thought to contribute to motor symptoms caused by dopamine deficiency. Thus, reducing intracellular Cl− using bumetanide may ameliorate these symptoms
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9920462/
P-cresol Alters Brain Dopamine Metabolism and Exacerbates Autism-Like Behaviors in the BTBR Mouse
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7226382/
Sertraline increases extracellular levels not only of serotonin, but also of dopamine in the nucleus accumbens and striatum of rats
https://www.sciencedirect.com/science/article/abs/pii/S0014299910008307
Just thought this was interesting. Maybe you could try to stack Zoloft or Adderall to increase dopamine with bumetanide.
Your first paper tells again that Bumetanide should raise IQ in Down Syndrome plus Alzheimer’s and Parkinson’s.
DeleteI wonder why Neurochlore don't just get it approved for these conditions and then make money on a non-diuretic analog. Much more likely to succeed than with "autism".
I fine this also interesting, could be the epigentic reason why ASD is on the rise. I wonder when folic acid was started to be pushed by ob/gyns.
DeleteThe effect of folic acid on GABA(A)-B 1 receptor subunit
https://pubmed.ncbi.nlm.nih.gov/23392927/
This too
ReplyDelete"We used the glutamic acid decarboxylase (GAD) inhibitor isoniazid (100 mg.kg-1, s.c.) which induces seizures by interfering with GABA synthesis through inhibition of GAD activity followed by kainic acid (5 mg.kg-1, s.c.) a glutamate receptor agonist which is commonly used to induce limbic seizures. Using intracerebral recordings of field potentials found that taurine (43 mg.kg-1, s.c.) had a significant anti-epileptic effect when injected prior to isoniazid and KA. Furthermore, injection of taurine to a mouse undergoing limbic seizure completely stopped burst population spikes and restored neuronal firing to its baseline. Therefore, taurine is potentially capable of treating seizure-associated brain damage."
Electrophysiological Evidence for Anti-epileptic Property of Taurine
https://pubmed.ncbi.nlm.nih.gov/35882808/
But wait, there's more!
ReplyDeleteTaurine and the control of basal hormone release from rat neurohypophysis
"Somewhat surprisingly, taurine induced increases in basal release of both vasopressin and oxytocin."
https://www.sciencedirect.com/science/article/abs/pii/S0014488603001055
"In addition, we noted that oxytocin reversed the effects of p-cresol, suggesting that oxytocin receptors could decrease BDNF secretion."
Gut neurotoxin p-cresol induces brain-derived neurotrophic factor secretion and increases the expression of neurofilament subunits in PC-12 cells - PMC (nih.gov)
Taurine has so many potential benefits and if taken after food seems to have no negative effects. If bought as a bulk powder it is really cheap.
DeleteHi Peter and Stephen,
ReplyDeleteMy kid has mitochondrial complex 1 deficiency. He is taking B complex, cartinine and antioxidants like vitamin C and E,Coq10.It has minimal to no effect over his cognitive and verbal skills.
What others supplements/medicines can we try for him other than this.
Does taurine helps...
It depends what other dysfunctions he has. If he has low brain folate for example, if you treat that he should talk more.
DeleteThe response to "mito cocktails" is highly variable. Some people see an immediate benefit while others see none at all. In mitochondrial disease there should be physical signs like lack of exercise endurance and weakness. If your child is jumping around his mitochondria are probably working fine.
I think there are lots of false positives in the cheek swab test.
I don't think taurine would specifically help mitochondrial disease, but it has effects like being an antioxidant which would help.
Does mitochondrial autism have gaba irregularities..may I know trying bumetanide is wise?
DeleteYou could try a jak inhibitor like Cibinqo or Rinvoq.
DeleteJAK inhibitors improve ATP production and mitochondrial function in rheumatoid arthritis: a pilot study
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10766792/
-Stephen
Dr Kelley does indeed have mitochondrial autism, which he calls Autism secondary to mitochondrial disease. These days autism doctors in the US seem to diagnose most people with level 3 autism as having usually complex 1 deficiency.
DeleteI think about 30 to 40% of level 3 autism will respond to bumetanide. Some people only respond after treating their immune system dysfunctions.
So really everyone with level 3 autism should trial bumetanide for 3 to 4 weeks.
Hello fellow members, please allow me to join the discussion. I second ''...taking B complex, cartinine and antioxidants like vitamin C and E,Coq10 has minimal to no effect''. However, according to Mitoswab, my son has normal RC-I, but decreased RC-IV and CS activity (RC-I/RC-IV) is 3,6 times higher than normal. Compensation mechanism seems logical.
ReplyDeleteAlso, while RC-II is normal (trending low), his The RC-II+III activity was below the normal range. I am not sure how reliable Mitoswab is to detect mitochondrial dysfunction. However, considering a mutation in TRIT1 found in DS, the presence of MD is obvious.
Since you were discussing the mitochondrial complexes deficiencies, may I ask how shoud I interpret the Mitoswab results and allign them to TRIT1 mutation? Also, as I mentioned, the regular mito cocktail does not seem to do much for DS; same usual challenges with lethargy, lack of focus, intolerance to physical/mental excercises (on top of regular neurodevelopmental delays). We are taking leucovorin, maybe thanks to it the speach is a bit improving (but still significantly behind).
The questions are: does DS has RC-IV deficiency? If yes, what can I do about it?
Stephen, you mentioned Cibinqo; while it is not available in our pharmacies, do you think it could be useful for my DS? I understand that JAK inhibitors primarily address immune system and inflammatory issues rather than directly targeting mitochondrial dysfunction. Is it correct?
Thank you!
Just clarifying, by DS you mean Down Syndrome?
ReplyDeleteJAK inhibition decreases the autoimmune burden in Down syndrome
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11213071/
Crnic Institute Clinical Trial Shows JAK Inhibitor Improves Multiple Autoimmune Conditions in Patients With Down Syndrome
https://news.cuanschutz.edu/linda-crnic-institute/crnic-institute-clinical-trial-shows-jak-inhibitor-improves-multiple-autoimmune-conditions-in-patients-with-down-syndrome#:~:text=The%20Crnic%20Institute%20study%20team,to%20start%20recruitment%20in%20late
I'm sorry for the confusion, DS is for Dear Son :)
DeleteHi Peter, I took Taurine 500 mg, to start with a lower dose. (Boy 14 years old, very hypersensitive, not many things - he has ok experience with L theanine, NAC, B12...). My question is not for this topic, maybe you know the answer to solve the dilemma. Over the years, things change, disappear, new ones appear... CRYING that occurs every morning, 1 hour after waking up, does not go away. I thought that melatonin was the cause (since we also use it when insomnia starts), but it also happens when it is not used. He also has therapy from a neuropsychiatrist, which works for him in some areas. Just to find the cause of that morning crying, dissatisfaction. If you have any advice, or if any of the parents have advice, please write to me. Thank you very much
ReplyDeleteTamara, I think there may be a link between the melatonin and serotonin affecting mood. This may continue after ceasing to take melatonin for some time. Melatonin and serotonin are closely related.
DeleteYou could either give up melatonin for a longer period or try a low dose of Lexapro. There are reports of it helping Aspies who cry often and a side effect of taking Lexapro can be not crying. Lexapro is a SSRI drug, so it is again coming back to serotonin.
Thank you for your reply. I'm going to try cutting out the melatonin. It will be difficult, because it falls into a period of NO SLEEP, so the whole family is struggling, and even melatonin does not work well then. Now it seems to me that magnesium bisglycinate and malate will help him. Although all this will be for a short period. A big greeting and I wish you all the best
DeleteTamara temporarily used Melatonin+Trazodone but and it did help with sleep, but increased anger/defiant behavior. Substitiuted with clonidine (20-30 mins before required bedtime) and Trazodone and both sleep and behavior improved.
Delete