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Creatine Transporter Deficiency

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June 12. 2019
Reena D Patel

I'm aware that this is a huge long shot....

I was wondering if anyone has any experience of the use of S-adenosyl Methionine (SAM) for creatien transporter deficiencies?

Can this increase risks of seizures?

Thanking you 

Reena

June 13. 2019
Will Batten

Hi Reena,

Sorry but no experience here.  Please do let us know what you find out as would be good to included in the metabolic formulary.  Current in draft writing drugs with S!

Thanks,

Will

Bristol Children's Hospital

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