GAA in disorders with functional GAMT and CT1
Many brain disorders are characterized by low creatine levels and impaired bioenergetics in the brain, including neurodegener- ative diseases, psychiatric disorders, or congenital creatine deficiency syndromes. Most patients with inherited or acquired creatine deficits in the brain are treated with different oral creatine formulations in aim to replenish cerebral creatine levels. However, this therapy typically requires supra-physiological doses of supplemental creatine and functional enzyme/transport machin- ery for creatine utilization, or being of limited efficacy. For example, in patients with inborn creatine transporter (CT1) deficiency, creatine supplementation alone does not improve clinical outcomes and does not result in replenished cerebral creatine levels. [TRUNCATED]
Ostojic SM. A new perspective to improve brain bioenergetics in disorders with functional GAMT and CT1. Biomed Pharmacother. 2016 Dec;84:1833. doi: 10.1016/j.biopha.2016.10.088. Epub 2016 Nov 5. PMID: 27825802.