Creatine transporter deficiency

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Creatineman
Posts: 42
Joined: Tue Jun 13, 2017 7:13 am

Re: Creatine transporter deficiency

Postby Creatineman » Sun Sep 03, 2017 4:05 pm

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Last edited by Creatineman on Wed Nov 08, 2017 8:17 pm, edited 1 time in total.

auract
Posts: 12
Joined: Thu Jun 15, 2017 3:46 pm

Re: Creatine transporter deficiency

Postby auract » Wed Sep 20, 2017 5:33 pm

@Creatineman how did it go with Creatine-Alpha-Ketoglutarate? I'm looking forward to hearing about your experience!

Creatineman
Posts: 42
Joined: Tue Jun 13, 2017 7:13 am

Re: Creatine transporter deficiency

Postby Creatineman » Wed Sep 20, 2017 10:41 pm

auract wrote:@Creatineman how did it go with Creatine-Alpha-Ketoglutarate? I'm looking forward to hearing about your experience!

It did nothing.
Last edited by Creatineman on Wed Nov 08, 2017 8:17 pm, edited 1 time in total.

auract
Posts: 12
Joined: Thu Jun 15, 2017 3:46 pm

Re: Creatine transporter deficiency

Postby auract » Thu Sep 21, 2017 4:11 pm

There is actually as second creatine transporter but it seems to be synthesized only in the retina.
https://www.ncbi.nlm.nih.gov/pubmed/23578822


There are also paralog genes where things get more complicated:
http://www.sciencedirect.com/science/ar ... 191301367X

Regarding the functioning of the transporter, the type of mutation does not easily correlate with the phenotype. For example, even a large deletion does not mean a severe phenotype and small mutations can be lethal to the entire transporter. For example, one base pair mutation may end up encoding an end of gene signal if in the right location. I suspect you're on to something though. It is possible that in some cases that go undetected, a partial transporter may lead to learning impairments that are not severe and definitely no seizures.

Have you seen this paper on fenugreek's effects on how the creatine is assimilated? I've been meaning to try it with monohydrate or glutamate but we're still having difficulties with administering the base formula for supplements
https://link.springer.com/article/10.10 ... 015-1145-1

Creatineman
Posts: 42
Joined: Tue Jun 13, 2017 7:13 am

Re: Creatine transporter deficiency

Postby Creatineman » Thu Sep 21, 2017 9:11 pm

Interesting thanks for those links. There is another creatine transporter in testis also

http://www.sciencedirect.com/science/ar ... 4396902542

There is a mild case of the transport defect here

http://onlinelibrary.wiley.com/doi/10.1 ... 480.x/full

We identified a 3-year-old male with CRTR deficiency referred for study owing to mild psychomotor retardation with independent walking acquired at 18 months and expressive language impairment. He never experienced epileptic seizures. Clinical examination revealed clumsiness in his gait and subtly abnormal hand movements.

After reviewing the clinical description of seven cases under the age of 4 years diagnosed previously,7,10,11,14,15 we conclude that our patient has a mild presentation of this condition with late-onset walking and no seizures or autistic behaviour

Lipoic acid increases creatine uptake also

https://www.ncbi.nlm.nih.gov/pubmed/14669930

I took both ALA, and fenugreek with no effects. Maybe AlA, and fenugreek only work in a normal person with functioning creatine transporters.
Last edited by Creatineman on Thu Oct 05, 2017 6:14 pm, edited 1 time in total.

Creatineman
Posts: 42
Joined: Tue Jun 13, 2017 7:13 am

Re: Creatine transporter deficiency

Postby Creatineman » Wed Sep 27, 2017 6:34 am

Still have not got test results yet.
It is possible to make home made liposomal creatine. The instructions to make liposomal vitamin c are here http://qualityliposomalc.com/ just replace vitamin c with creatine monohydrate.
Last edited by Creatineman on Thu Oct 05, 2017 6:13 pm, edited 1 time in total.

auract
Posts: 12
Joined: Thu Jun 15, 2017 3:46 pm

Re: Creatine transporter deficiency

Postby auract » Mon Oct 02, 2017 4:15 pm

Creatineman, what are your thoughts and have you tried any PCr-Mg-complex? Some papers speculate that this might bypass the CRT1 transporter.

Creatineman
Posts: 42
Joined: Tue Jun 13, 2017 7:13 am

Re: Creatine transporter deficiency

Postby Creatineman » Thu Oct 05, 2017 4:26 am

I tried magnesium creatine chelate for a while which is a chelate like what you mentioned but it didn't do anything. I don't know where to get the on you said. I doubt manufacturers would have it on hand.

After trying liposomal creatine monohydrate, anhydrous, and phosphate I have concluded they are impossible to make due to the high pH needed to make them stable which drives down the transition temperature of phospholipids, and also might be dangerous, and for the creatine phosphate the amount of sodium it puts in the mix which causes diarrhoea. Trying transdermal tokkyo nutrition deca creatine which contains creatine decanoate. The minimum order quantity for creatine decanoate from suppliers on ali baba is 100kg ):

Creatine amide leucine would probably work in this http://www.getrippednutrition.com/VPX_C ... m?CartID=1
however VPX stopped making it which means the body building shops that have some left over will eventually run out, and no manufacturers make it so then it would be back to square one.
Last edited by Creatineman on Wed Nov 08, 2017 8:18 pm, edited 2 times in total.

Creatineman
Posts: 42
Joined: Tue Jun 13, 2017 7:13 am

Re: Creatine transporter deficiencyI

Postby Creatineman » Tue Dec 05, 2017 1:00 am

I spent 1000$, did a gene test, and it turns out I don't have slc6a8. Through experimenting with calcium pyruvate, citric acid, and ATP powder I now believe I have an electron transport chain disease most likely Leighs syndrome, or MELAS syndrome though electron transport chain diseases all overlap in symptoms, and all severely effect the muscles, and the brain, which is why I thought I had slc6a8 as they are my main organs affected. Electron transport chain diseases appear to be quite easily treated with succinic acid per some studies so I have ordered some, and will be taking it in a week or so when it arrives. In the meantime I am taking ATP powder which is helping.

After researching creatine/creatine diseases, and trying over 15 different types over the past year here is some possible treatments for the transport defect.

Creatine glycerol phosphate. I emailed metabolic nutrition and asked them if it can enter cells without the creatine transporter. They said it has greater penetration through cell membranes independent of the creatine transporter. Available on ebay, websites, and at some body building shops.

Guanidinoacetate/glycocyamine. The creatine precursor naturally in the body. Per studies it can enter cells through taurine, and other non creatine transporters. In theory it should be able to get into the brain, and then be converted by GAMT enzyme into creatine. It is thought enzymes to make creatine are not in muscles so getting GAA into muscles may not help however some CTD patients have normal muscle creatine so they don't need to increase muscle creatine. Maybe AGAT, and GAMT are present in muscles. Or there is another creatine transporter. Needs to be taken with 1 part GAA 3-4 parts TMG/betaine because the GAMT enyzme uses methyl groups to convert GAA into creatine. Available on ebay Australia.

Creatine phosphate. May be able to enter cells through phosphate transporters. The bond between the creatine, and phosphate is strong, and so a lot will survive through the stomach intact. Available through suppliers on alibaba 5kg for around 400 AUD or biotechs creatine phosphate. If buying from ali baba specify creatine phosphate with NO sodium salt or in high doses the sodium might cause diarrhoea.

Oral magnesium creatine chelate. A study suggested it could enter cells through acetylcholine transporters. Available on some websites just google around. Also called creatine magna power patented by Albion Labs.

Transdermal creatine ethyl ester HCL. A study shows CEE is lipid permeable. Stable at acid pH for long periods of time which is why they add HCL to lower the pH of water when it is dropped in it but It's half life at alkaline pH like in the intestines or blood is short so once through the stomach into the intestines the bond breaks leaving useless creatine, and alcohol. Rubbing it through the skin should get the intact molecule into the blood where it may be able to enter cells straight through the membrane. Mix with a little water, and glycerol to form a paste or even better a little water, glycerol, and DMSO, and rub on the skin.

Home made liposomal magnesium creatine chelate. In the patent on MCC they have one embodiment/variation of the invention as a sports drink which means MCC is stable in water for long periods of time unlike creatine monohydrate. Putting things in liposomes allows them to make it though the stomach, across the intestines, into the lymph system, into the blood, and then into the cells still protected in the liposome.
https://www.youtube.com/watch?v=KiZvvd5dhfM

In 100ml water add 3g MCC (it's not very water soluble less than 500mg/100ml- try it- it is slightly more lipid soluble than water soluble 1:1 or even better in coconut oil) 3g glycerol, 6 lecithin. Blend well. Put in glass container in water filled jewellery cleaner/sonicater, and sonicate for 1 hour, then drink. If making a 10 day batch times everything by 10. Even at 3g/100ml some will accumulate on the bottom meaning it is not in liposomes or even just dissolved in the water or lecithin maybe only 2.5g is. Adding 1:1 ethanol or DMSO/MCC might help, and be able to get it up to 6g/100ml maybe.

Creatine decanoate. In tokkyo nutritions product deca creatine but don't know how much as they don't say. Per labelling laws the highest concentration ingredient is listed first so it is at least 34% creatine decanoate. The minimum order quantity is 500kg per the suppliers on Ali Baba though so if someone put their kid on it, and he got better if Tokkyo nutrtion ever stopped making it they would have to find another treatment.

creatine amide leucine in VPX cremtor. Same problem as above. Minimum order quantity from suppliers is 500kg.

muscletech creactor. May contain cyclocreatine.

ATP powder should help also.

If giving any of these treatments, and they help then they can never be stopped. Getting creatine or ATP into the brain of someone deficient in it will produce a quick improvement but when stopped the regression will be worse than before, and worse than can be imagined. This is what happened with me start/stopping ATP powder a few weeks ago. But if giving one of these for several weeks or months with no improvement then that means it probably isn't working, and so can be stopped with no worsening of the patient.


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