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.