Creatine deficiency syndromes and the importance of creatine synthesis in the brain

Creatine Deficiency Syndromes

Creatine, central nervous system and creatine deficiency syndromes

It was long thought that most of brain creatine was of peripheral origin. However, recent works have demonstrated that creatine crosses blood-brain barrier only with poor efficiency, and that CNS must ensure parts of its creatine needs by its own creatine synthesis pathway, thank to the brain expression of AGAT and GAMT (creatine synthesis) and SLC6A8 (creatine transporter). This new understand...

Creatine metabolism and disease Primary creatine metabolism disorders- Cerebral Creatine Deficiency Syndromes Cerebral Creatine Deficiency Syndromes (CCDS) are a group of disorders consisting of defects in proteins involved in creatine biosynthesis, AGAT and GAMT, and in its transporter, SLC6A8

Irreversible brain creatine deficiency with elevated serum and urine creatine: a creatine transporter defect?

Recent reports highlight the utility of in vivo magnetic resonance spectroscopy (MRS) techniques to recognize creatine deficiency syndromes affecting the central nervous system (CNS). Reported cases demonstrate partial reversibility of neurologic symptoms upon restoration of CNS creatine levels with the administration of oral creatine. We describe a patient with a brain creatine deficiency synd...

Are cerebral creatine deficiency syndromes on the radar screen?