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

  title={Creatine deficiency syndromes and the importance of creatine synthesis in the brain},
  author={Olivier Braissant and Hugues Henry and Elidie B{\'e}ard and Jos{\'e}phine Uldry},
  journal={Amino Acids},
Creatine deficiency syndromes, due to deficiencies in AGAT, GAMT (creatine synthesis pathway) or SLC6A8 (creatine transporter), lead to complete absence or very strong decrease of creatine in CNS as measured by magnetic resonance spectroscopy. Brain is the main organ affected in creatine-deficient patients, who show severe neurodevelopmental delay and present neurological symptoms in early infancy. AGAT- and GAMT-deficient patients can be treated by oral creatine supplementation which improves… 

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