The second most common cause of X-linked mental retardation is the deficiency of creatine transporter (encoded by SLC6A8), which leads to speech and language disorders with severe cognitive impairment. This syndrome is caused by cerebral creatine deficiency. Kurosawa et al. have treated the Slc6a8â€“/y mice with cyclocreatine, a creatine analog which is more susceptible to passive transport across membranes (including blood-brain-barrier) and has been already investigated in humans. In contrast to placebo or creatine treated animals, cyclocreatine treated Slc6a8â€“/y mice showed detectable levels of brain cyclocreatine and cyclocreatine phosphate and improvement in cognitive abilities. Thus, cyclocreatine appears promising as a potential therapy for creatine transporter deficiency.
Kurosawa et al. Cyclocreatine treatment improves cognition in mice with creatine transporter deficiency
Published in Volume 122, Issue 8 (August 1, 2012)
J Clin Invest. 2012;122(8):2837â€“2846.
Posted by Nicola Brunetti-Pierri, MD, FACMG