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Creatine transporter deficiency

Posted: Wed May 31, 2017 4:32 pm
by CTR
We have a 5 year old child (asperger) with high creatine in urine and normal creatine blood values.
Because of that we could have a creatine transporter deficiency.

http://www.childneurologyfoundation.org ... iency-ctd/

Here are some new developments

http://www.josephfclark.com/blog/?p=1185

https://creatineinfo.org/clinical-trial ... a-updates/

Cyclocreatine is the substance they are trying to market.
It could be years before a medicine is available.
Cyclocreatine is one of the only versions of creatine that is able to
bypass a transporter problem and get creatine directly into the brain cells.

Does somebody know a supplement containing cyclocreatine?
I only know a supplement containing cyclocreatine phosphate.
https://blog.priceplow.com/supplement-n ... ew-formula

Does anybody know if cyclocreatine phosphate would fall apart in
cyclocreatine and phosphate in the stomach?


Also creatine gluconate could be interesting.
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5231321/

But the question is how much creatine gluconate would reach the brain.
It could well be possible that most of the creatine gluconate falls apart as creatine
and glucose in the stomach and creatine alone will not reach the brain cells with a
transporter deficiency.

Re: Creatine transporter deficiency

Posted: Fri Jun 02, 2017 2:28 am
by atillathedan
Hi - we have a 25 month old who has the Creatine Transporter Deficiency. It got flagged when we convinced his nuerologist to give him a full genetic panel.

We found this out about 3 months ago (actually on Super Bowl Sunday) and since then have been giving him creatine supplements (liquid cytotine), L-arginige and Glycine. This is at the advice of his metabolic specialist.

We have seen increased levels or Creatinine in his urine but there is still now definitive answer is to whether creatine is getting to his brain and muscles.

very interesting in cyclocreatine and Lumos Pharmaceuticals as they believe it will be able to transport in the cells since it is a direct molecular structure and then convert to creatine once it is in the cells. http://lumos-pharma.com/clinical-trials/lum-001/

I am trying to see if anyone has yet found a source for cyclocreatine that is designed for human consumption and whether it has had an effect yet.

Sympathy for you as I live my little guy more than anything and while he is a very happy little boy he is way behind. Still can't walk by himself and has no words.

Re: Creatine transporter deficiency

Posted: Tue Jun 06, 2017 10:37 am
by CTR
From the research I red L-arginige and Glycine and Creatine monohydrate only
had little succes in about 33% affected. It could be that Creatine gluconate does
pass the transporter problem a bit more like the link of the Italian researchers showed
and creatine gluconate is safe.
Can I PM mail you or could you leave your email adress? It is usefull to exchange experiences
in these rare metabolic disorders.

Re: Creatine transporter deficiency

Posted: Tue Jun 13, 2017 7:42 am
by Creatineman
Hi.
There is a lot of different forms of creatine-

http://www.m4carbine.net/archive/index.php/t-27312.html

I suspect I have a transport defect, and am trying different forms. I originally thought creatine bonded to another nutrient would work however after being on two forms of six weeks it has not done much. I now think the creatine analog creatinol o phosphate, creatine glycerol phosphate, and creatine phosphate might work.

Re: Creatine transporter deficiency

Posted: Wed Jun 14, 2017 3:37 am
by Shumake
What is the best type of creatine? Monohydrate?

Re: Creatine transporter deficiency

Posted: Thu Jun 15, 2017 12:20 am
by Creatineman
Shumake wrote:What is the best type of creatine? Monohydrate?


For the transport defect I thought creatine bonded to another nutrient might work but now I don't. I think creatinol o phosphate or creatine phosphate or creatine glycerol phosphate might work though.

Re: Creatine transporter deficiency

Posted: Thu Jun 15, 2017 3:56 pm
by auract
We have a 30 month old with creatine transporter deficiency and looking into cyclocreatine too. @atillathedan I'd love to compare notes though for a fair warning we just got the diagnostic 3 days ago.

Re: Creatine transporter deficiency

Posted: Fri Jun 16, 2017 3:12 am
by Creatineman
I get quoted 1000 USD a kg for cyclocreatine from the suppliers. Pricey. Creationol o phosphate may be fat soluble, and is 60 USD a kilo from bulk supplements.com

Re: Creatine transporter deficiency

Posted: Fri Jun 16, 2017 3:31 pm
by auract
Are there any differences for creatine malate? How do you source that?

Re: Creatine transporter deficiency

Posted: Fri Jun 16, 2017 3:32 pm
by auract
Similarly, do you have any references to the toxicity of the creatine malate or cyclocreatine in humans? I understand cyclocreatine was used for cancer research at some point in some clinical trials but I have not found the references or dosage.

Re: Creatine transporter deficiency

Posted: Sat Jun 17, 2017 1:42 am
by Creatineman
auract wrote:Are there any differences for creatine malate? How do you source that?


I no longer think that will work. I think creatinol o phosphate or creatine phosphate or creatine glycerol phosphate might work though.

Re: Creatine transporter deficiency

Posted: Tue Jul 04, 2017 3:56 pm
by Creatineman
Bump.

Re: Creatine transporter deficiency

Posted: Wed Jul 05, 2017 4:25 am
by Creatineman
Here is an interview about creatine https://www.youtube.com/watch?v=s2vST1ETgBY

Re: Creatine transporter deficiency

Posted: Wed Jul 05, 2017 11:12 pm
by atillathedan
thanks creatineman - interesting info.

We were able to find a compound pharmacy that makes L-arginine and Glycine in liquid form which is making it much easy to mix with the creatine and juice.

He is progressing but its still really slow.

Re: Creatine transporter deficiency

Posted: Wed Jul 05, 2017 11:18 pm
by atillathedan
has anyone actually tried using cylcocreatine phosphate yet?

Re: Creatine transporter deficiency

Posted: Thu Jul 06, 2017 6:08 am
by Creatineman
/

Re: Creatine transporter deficiency

Posted: Fri Jul 07, 2017 12:33 am
by Creatineman
https://patentscope.wipo.int/search/en/ ... PCT+Biblio

As it will be shown in more detail in the section relating to the examples, the phosphocreatine complexes of formula (I) of the present invention possess a good ability to penetrate across the cell plasma membranes and consequently to cross the blood brain barrier, which renders them effective for use as active ingredients for preparing a medicament for the treatment of diseases of the central nervous system, in particular the diseases which imply an energy deficiency or a creatine deficiency.

Moreover, the administration of the phosphocreatine derivatives of the invention instead of creatine is preferable, in that the compound does not need to be phosphorylated by creatin-kinase and can immediately release the energy available in the phosphate link of PCr.

The inventors also showed that the ability of the complexes of formula (I) to cross the cell plasma membranes is independent of the presence of a creatine transporter, thus making it possible to envisage their application also for the treatment of diseases involving the deficiency of the creatine transporter which were up to know incurable.

Thus, a second aspect of the invention is to use the phosphocreatine complexes of formula (I) for preparing a medicament for the treatment of diseases of the central nervous system, preferably selected from the group consisting of diseases of the central nervous system which imply energy deficiency, diseases of the central nervous system which imply deficiency of creatine and diseases of the central nervous system which imply deficiency of the creatine transporter.

Illustrative examples of such diseases are:
- hereditary deficiency of the creatine transporter: this rare disease causes severe brain disfunction causing mental retardation and movement disorders;
hereditary deficiency of guanidinoacetate-methyltransferase, or hereditary deficiency of arginine-glycine-amidinotransferase: these diseases too cause severe brain disfunction in children leading to mental retardation, autism, movement disorders and epilepsy;
- conditions known to be associated to a high risk of brain ischemic damage: among them, by way of example, open heart surgery (e.g. aortic-coronaric by-pass) which are often followed by cognitive disorders caused by cerebral oligaemia during surgery; transient ischemic attacks; and other conditions;
- anoxic encephalopathy of the new borns;
- ischemic stroke;
- neurodegenerative, diseases (Alzheimer disease, Parkinson disease, Huntington's Chorea).

In a particularly preferred embodiment, said disease is the disease caused by creatine transporter deficiency.



I think any form of creatine with the phosphate group already on it would work.

Re: Creatine transporter deficiency

Posted: Fri Jul 07, 2017 12:53 pm
by Creatineman
I emailed metabolic nutrition about their product creatine glycerol phosphate asking if it is lipid soluble enough to cross cell membranes independent of the creatine transporter. Here is their response:


The phosphate group coupled with the creatine (i.e. Creatine Phosphate) with the glycerol components...adds a higher degree of transport across the lipid membrane independent of the creatine transporter.

Re: Creatine transporter deficiency

Posted: Fri Jul 07, 2017 8:22 pm
by auract
Creatineman this is fascinating information on Creatinol O-Phosphate.

If I hear you correctly, you're saying that Creatinol O-Phosphate should pass the BBB withouth the CrT (SLC6A8). Is that right?

Re: Creatine transporter deficiency

Posted: Fri Jul 07, 2017 10:26 pm
by Creatineman
I think I was wrong about COP. CGP will work per metabolic nutritions email.