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Creatine plays a critical role in the regeneration of adenosine triphosphate (ATP) in the brain, muscle, and heart. Disorders of creatine synthesis or its transporter can lead to neurological impairment. SLC6A8 is an X-linked gene responsible for encoding the creatine transporter protein. A mutation in this gene can cause creatine transporter deficiency (CTD) which may hinder the uptake of creatine by brain and muscle cells(1). Inadequate amount of creatine will lead to decreased formation of phosphocreatine which is crucial in maintaining key cellular functions.