In one of the comments p. mentions her own fresh blog about the creatine tranporter deficiency, GAMT and AGAT.
As I think it is very importent to share as much information as possible here is the link again (in the comments it might get lost): http://creatineboy.blogspot.com/
Creatine Transporter Deficiency affects primarily the brain and the muscles of affected children. A really good overview of creatine deficiency syndromes can be found here.
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